Karen Weissbecker - Academia.edu (original) (raw)

Papers by Karen Weissbecker

Research paper thumbnail of Segregation analysis of juvenile myoclonic epilepsy

American Journal of Human Genetics, Sep 1, 1994

Research paper thumbnail of Neonatal screening for biotinidase deficiency: Results of a 1-year pilot study

The Journal of Pediatrics, 1986

We screened 81,243 infants born in Virginia during the l-year period beginning Jan. 24, 1984, for... more We screened 81,243 infants born in Virginia during the l-year period beginning Jan. 24, 1984, for deficiency of the enzyme biotinidase. A simple colorimetric screening procedure was used to detect the presence or absence of biotinidase activity on the same blood-soaked filter paper cards that are currently used in most neonatal metabolic screening programs. Two newborn infants with biotinidase deficiency were identified during the 12-month pilot study, in addition, two affected siblings of one of the newborn infants were detected through secondary family screening. On the basis of these results, the disorder appears to be at least as frequent as several others for which newborn screening is currently conducted. There were no known false-negative test results, and only 0.09% false-positive results that necessitated requests for second blood samples. False-positive test results can be readily identified by the use of a quantitative assay, which can also be used to confirm the diagnosis and to detect heterozygous family members in the case of true positives. On the basis of currently recognized criteria, biotinidase deficiency should be considered for inclusion among the metabolic disorders for which screening is performed in the neonatal period.

Research paper thumbnail of Family study of obsessive-compulsive disorder in a Mexican population

PubMed, 1993

Twenty seven obsessive-compulsive disorder (OCD) patients were studied at the Instituto Mexicano ... more Twenty seven obsessive-compulsive disorder (OCD) patients were studied at the Instituto Mexicano de Psiquiatría in Mexico City. This is the first sample of OCD patients studied in Latin America. There was a significant sex ratio difference and a significant difference in the type of obsessions and compulsions displayed by males and females. Co-morbidity data demonstrated a high frequency of obsessive-compulsive personality disorders, depression, sexual abuse, suicidal attempts and neurological damage. Approximately one third of OCD cases demonstrated a positive family history. There was a higher than expected frequency of first degree relatives affected with OCD. In addition, this study may support the hypothesis that OCD and tics are genetically related.

Research paper thumbnail of One Year into the COVID-19 Pandemic: an Update on Medical Student Experiences and Well-being

Journal of General Internal Medicine

Research paper thumbnail of Tracking Medical Professionalism Across the Educational Continuum

Medical Science Educator, 2016

Professionalism is a competency that can be shaped and developed over time; therefore, assessing ... more Professionalism is a competency that can be shaped and developed over time; therefore, assessing behavior and growth across the educational continuum is essential. At Tulane, we are piloting a system that tracks patterns of behavior across all courses and years. This approach allows for longitudinal assessment of student performance and helps identify those who need additional support to meet expected competencies. Moreover, maintaining a professionalism theme throughout the curriculum raises awareness of our commitment to a culture of professionalism and assures that our graduating students embody the standards and ethics essential to the practice of medicine.

Research paper thumbnail of CHROMOSOME-6P Markers and Juvenile Myoclonic Epilepsy

Cytogenetics and cell genetics

Research paper thumbnail of Mapping and positional cloning of common idiopathic generalized epilepsies: juvenile myoclonus epilepsy and childhood absence epilepsy

Advances in neurology, 1999

Among the 40 to 100 million persons with epilepsy worldwide and the 2 to 2.5 million persons with... more Among the 40 to 100 million persons with epilepsy worldwide and the 2 to 2.5 million persons with epilepsies in the United States, approximately 50% have generalized epilepsies. Among all epilepsies, the most common are juvenile myoclonus epilepsy (JME) with 10% to 30% of cases, childhood absence epilepsy (CAE) with 5% to 15% of cases, and pure grand mal on awakening with 22% to 37% of cases. In the last decade, six different chromosomal loci for common generalized epilepsies have been identified. These include two separate loci for JME in chromosomes 6p and 15q. The epilepsy locus in chromosome 6p expresses the phenotypes of classic JME, pure grand mal on awakening, and possibly JME mixed with absences. Two separate loci also are present for pyknoleptic CAE, namely, CAE that evolves to JME in chromosome 1p and CAE with grand mal in chromosome 8q24. Pandolfo et al. from the Italian League Against Epilepsy have reported two other putative susceptibility loci for idiopathic generalize...

Research paper thumbnail of Genetic epidemiology and the search for epilepsy genes

Advances in neurology, 1999

Research paper thumbnail of DRD2, DRD3 and 5HT2A receptor genes polymorphisms in obsessive-compulsive disorder

Molecular psychiatry, 1996

We performed an association analysis of the DRD2, DRD3 and 5HT2A genes polymorphisms in 67 Obsess... more We performed an association analysis of the DRD2, DRD3 and 5HT2A genes polymorphisms in 67 Obsessive-Compulsive Disorder (OCD) patients and 54 healthy controls. There were no statistically significant differences in genotype or allele frequencies for any of the polymorphisms studied between OCD subjects and controls. For the subgrouped analysis, no results were significant after correction for multiple testing, although homozygosity of DRD2/A2A2 in subjects displaying vocal or motor tics approached significance compared to controls (Fisher exact test, P = 0.008). Our results may follow the notion that OCD patients with tics represent a different genetic subtype of the disease.

Research paper thumbnail of The choice of epilepsy syndromes for genetic analysis

Epilepsy research. Supplement, 1991

Research paper thumbnail of Reliability of diagnoses — the importance of being honest

Psychiatric Genetics, 1996

Research paper thumbnail of Compulsive Behavior in Generalized Anxiety Disorder and Obsessive-Compulsive Disorder

The Journal of Nervous & Mental Disease, 1999

Close Window. Close Window. Thank you for choosing to subscribe to the eTOC for The Journal of Ne... more Close Window. Close Window. Thank you for choosing to subscribe to the eTOC for The Journal of Nervous and Mental Disease. Enter your Email address: Wolters Kluwer Health may email you for journal alerts and information ...

Research paper thumbnail of Segregation analysis of diastolic blood pressure in a large pedigree

Genetic Epidemiology, 1993

Hypertension, a major risk factor for cardiovascular diseases, is thought to be inherited to some... more Hypertension, a major risk factor for cardiovascular diseases, is thought to be inherited to some extent. However, the nature of its genetic component remains unresolved. In the present study, data from a single large kindred (the HGARl pedigree) were used to search for evidence of single gene and multifactorial effects on diastolic blood pressure. Commingling analyses found that a mixture of three distributions fit the data significantly better than a single normal distribution, suggesting a major effect influencing diastolic blood pressure levels. However, segregation analysis, using regressive models, indicated that the transmission probabilities were not consistent with Mendelian expectations. There was no evidence of either major gene or polygenic effects on diastolic blood pressure levels in this family.

Research paper thumbnail of Genes for salivary proline-rich proteins and taste for phenylthiourea are not closely linked in humans

Cytogenetic and Genome Research, 1988

Research paper thumbnail of Ulnar/fibular ray defect and brachydactyly in a family: a possible new autosomal dominant syndrome

Clinical Dysmorphology, 2003

The ulnar-mammary syndrome (MIM 181450) includes postaxial ray defects, abnormalities of growth, ... more The ulnar-mammary syndrome (MIM 181450) includes postaxial ray defects, abnormalities of growth, delayed sexual development, and mammary and apocrine gland hypoplasia. Brachydactyly type E (MIM 113300) presents with shortening of the metacarpals and phalanges in the ulnar ray in association with moderately short stature. We describe a three-generation family with variable expression of ulnar/fibular hypoplasia, brachydactyly, ulnar ray defects and short stature. The proband had ulnar hypoplasia with missing IV-Vth fingers, fibular hypoplasia on the right, bilateral club feet, growth retardation, a hypoplastic midface, an ASD and hemangiomas. She had normal mammary tissue and normal sweating. The mother had short stature, midfacial hypoplasia, a hypoplastic ulna and hypoplasia of the IVth metacarpal (brachydactyly) on the right without other associated malformations. The maternal grandfather had mild bilateral fibular hypoplasia and midphalangeal brachydactyly of the IV-Vth toes. His sister had mild short stature and shortening of the IVth metacarpal of the left hand. Two-point linkage analysis with microsatellite markers spanning the Ulnar-Mammary locus at 12q24.1 did not confirm linkage. The patients may have a previously undescribed syndrome. Clin Dysmorphol 12:161-165 c 2003 Lippincott Williams & Wilkins.

Research paper thumbnail of Biochemical and genetic analysis of a child with cystic fibrosis and cystinosis

American Journal of Medical Genetics, 1991

We have studied a child with cystic fibrosis (CF), nephropathic cystinosis, and manifestations of... more We have studied a child with cystic fibrosis (CF), nephropathic cystinosis, and manifestations of Bartter syndrome, a finding reported previously in both of these diseases (CF and cystinosis). The chance of an individual inheriting a mutant allele for both CF and cystinosis from each of his parents by independent segregation is very small. Therefore, other mechanisms of inheritance were investigated, including whether his diseases were caused by a chromosome deletion or rearrangement that caused defects in both genes, whether his phenotype was caused by a new mutation or variant of either disease, or whether both diseases were inherited together due to inheritance of 2 copies of the same chromosome from one of the parents (uniparental disomy). An investigation was made of whether having mutations for both CF and cystinosis resulted in a different phenotype for either disease and whether the child was a heterozygote rather than a homozygote for one of the mutations. The results suggest that neither disease influenced the expression of the defect in the other and that this child inherited a mutant allele for both diseases independently from each parent.

Research paper thumbnail of Confirmation of linkage between juvenile myoclonic epilepsy locus and the HLA region of chromosome 6

American Journal of Medical Genetics, 1991

Research paper thumbnail of Complex segregation analysis of obsessive-compulsive disorder in 141 families of eating disorder probands, with and without obsessive-compulsive disorder

American Journal of Medical Genetics, 2000

Probands affected with eating disorders (ED) present a higher number of relatives affected with o... more Probands affected with eating disorders (ED) present a higher number of relatives affected with obsessive-compulsive disorders/tic disorders than a comparison population. Therefore, we hypothesized that ED and obsessive-compulsive disorder (OCD) might share the same biological liability, and that a single major gene might account for that liability. We tested this hypothesis by applying a complex segregation analysis to 141 families of probands affected with ED (89 with anorexia nervosa, restricting and binge-eating types, 52 with bulimia nervosa). Given the hypothesized relationship between OCD and genetic spectrum disorders, we considered these diagnoses as affected phenotype in relatives. In Italian ED families, ED and OCD followed a Mendelian dominant model of transmission. When probands were divided according to codiagnosis of OCD, best fit in the subgroup of families of 114 probands without OCD codiagnosis was for a Mendelian dominant model of transmission whereas a Mendelian additive model of transmission represented best fit in the subgroup of families of 27 probands with an OCD co-diagnosis. Genetic transmission was not shown in those families where the only affected phenotype was ED. The existence of a Mendelian mode of genetic transmission within ED families supports the hypothesis that a common genetic liability could account for both ED and OCD. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:384-391, 2000.

Research paper thumbnail of Neonatal screening for biotinidase deficiency in north eastern italy

European Journal of Pediatrics, 1988

We reviewed the outcome of newborn screening for biotinidase deficiency performed at our departme... more We reviewed the outcome of newborn screening for biotinidase deficiency performed at our department since 1987. Among 1,097,894 newborns screened, 461 were recalled, and 18 were identified as affected by complete or partial biotinidase deficiency (incidence 1:61,000, false positive rate 0.04%). The common missense mutation Q456H was found in 80% of patients with profound biotinidase deficiency. Of them, one patient harbored the novel mutation M399I in compound heterozygosity (M399I/Q456H). The complex allele A171T/D444H in cis was found in two patients with profound biotinidase deficiency (in homozygosity and in compound heterozygosity with the R211H mutation, respectively) and in one patient with partial biotinidase deficiency (in compound heterozygosity with the protective allele D444H in trans). All detected patients were treated and followed up at our Center until present. Biotin therapy (10-20 mg/day) allowed the full prevention of clinical symptoms in all patients with no adverse effects. These excellent outcomes confirm that newborn screening for biotinidase deficiency is a very effective secondary prevention program.

Research paper thumbnail of Sudden Death Associated With Biotinidase Deficiency

Pediatrics, 1987

To the Editor.— We report a case of sudden death in a patient with presumed biotinidase deficienc... more To the Editor.— We report a case of sudden death in a patient with presumed biotinidase deficiency and emphasize the importance of suspecting this diagnosis in patients who present with compatible clinical findings. A nonconsanguineous couple was seen for genetic counseling following the death of their first child, a boy, at 23 months of age. A review of the history revealed that the child was normal until 5½ months of age when seizures developed which were eventually controlled with carbamazepine.

Research paper thumbnail of Segregation analysis of juvenile myoclonic epilepsy

American Journal of Human Genetics, Sep 1, 1994

Research paper thumbnail of Neonatal screening for biotinidase deficiency: Results of a 1-year pilot study

The Journal of Pediatrics, 1986

We screened 81,243 infants born in Virginia during the l-year period beginning Jan. 24, 1984, for... more We screened 81,243 infants born in Virginia during the l-year period beginning Jan. 24, 1984, for deficiency of the enzyme biotinidase. A simple colorimetric screening procedure was used to detect the presence or absence of biotinidase activity on the same blood-soaked filter paper cards that are currently used in most neonatal metabolic screening programs. Two newborn infants with biotinidase deficiency were identified during the 12-month pilot study, in addition, two affected siblings of one of the newborn infants were detected through secondary family screening. On the basis of these results, the disorder appears to be at least as frequent as several others for which newborn screening is currently conducted. There were no known false-negative test results, and only 0.09% false-positive results that necessitated requests for second blood samples. False-positive test results can be readily identified by the use of a quantitative assay, which can also be used to confirm the diagnosis and to detect heterozygous family members in the case of true positives. On the basis of currently recognized criteria, biotinidase deficiency should be considered for inclusion among the metabolic disorders for which screening is performed in the neonatal period.

Research paper thumbnail of Family study of obsessive-compulsive disorder in a Mexican population

PubMed, 1993

Twenty seven obsessive-compulsive disorder (OCD) patients were studied at the Instituto Mexicano ... more Twenty seven obsessive-compulsive disorder (OCD) patients were studied at the Instituto Mexicano de Psiquiatría in Mexico City. This is the first sample of OCD patients studied in Latin America. There was a significant sex ratio difference and a significant difference in the type of obsessions and compulsions displayed by males and females. Co-morbidity data demonstrated a high frequency of obsessive-compulsive personality disorders, depression, sexual abuse, suicidal attempts and neurological damage. Approximately one third of OCD cases demonstrated a positive family history. There was a higher than expected frequency of first degree relatives affected with OCD. In addition, this study may support the hypothesis that OCD and tics are genetically related.

Research paper thumbnail of One Year into the COVID-19 Pandemic: an Update on Medical Student Experiences and Well-being

Journal of General Internal Medicine

Research paper thumbnail of Tracking Medical Professionalism Across the Educational Continuum

Medical Science Educator, 2016

Professionalism is a competency that can be shaped and developed over time; therefore, assessing ... more Professionalism is a competency that can be shaped and developed over time; therefore, assessing behavior and growth across the educational continuum is essential. At Tulane, we are piloting a system that tracks patterns of behavior across all courses and years. This approach allows for longitudinal assessment of student performance and helps identify those who need additional support to meet expected competencies. Moreover, maintaining a professionalism theme throughout the curriculum raises awareness of our commitment to a culture of professionalism and assures that our graduating students embody the standards and ethics essential to the practice of medicine.

Research paper thumbnail of CHROMOSOME-6P Markers and Juvenile Myoclonic Epilepsy

Cytogenetics and cell genetics

Research paper thumbnail of Mapping and positional cloning of common idiopathic generalized epilepsies: juvenile myoclonus epilepsy and childhood absence epilepsy

Advances in neurology, 1999

Among the 40 to 100 million persons with epilepsy worldwide and the 2 to 2.5 million persons with... more Among the 40 to 100 million persons with epilepsy worldwide and the 2 to 2.5 million persons with epilepsies in the United States, approximately 50% have generalized epilepsies. Among all epilepsies, the most common are juvenile myoclonus epilepsy (JME) with 10% to 30% of cases, childhood absence epilepsy (CAE) with 5% to 15% of cases, and pure grand mal on awakening with 22% to 37% of cases. In the last decade, six different chromosomal loci for common generalized epilepsies have been identified. These include two separate loci for JME in chromosomes 6p and 15q. The epilepsy locus in chromosome 6p expresses the phenotypes of classic JME, pure grand mal on awakening, and possibly JME mixed with absences. Two separate loci also are present for pyknoleptic CAE, namely, CAE that evolves to JME in chromosome 1p and CAE with grand mal in chromosome 8q24. Pandolfo et al. from the Italian League Against Epilepsy have reported two other putative susceptibility loci for idiopathic generalize...

Research paper thumbnail of Genetic epidemiology and the search for epilepsy genes

Advances in neurology, 1999

Research paper thumbnail of DRD2, DRD3 and 5HT2A receptor genes polymorphisms in obsessive-compulsive disorder

Molecular psychiatry, 1996

We performed an association analysis of the DRD2, DRD3 and 5HT2A genes polymorphisms in 67 Obsess... more We performed an association analysis of the DRD2, DRD3 and 5HT2A genes polymorphisms in 67 Obsessive-Compulsive Disorder (OCD) patients and 54 healthy controls. There were no statistically significant differences in genotype or allele frequencies for any of the polymorphisms studied between OCD subjects and controls. For the subgrouped analysis, no results were significant after correction for multiple testing, although homozygosity of DRD2/A2A2 in subjects displaying vocal or motor tics approached significance compared to controls (Fisher exact test, P = 0.008). Our results may follow the notion that OCD patients with tics represent a different genetic subtype of the disease.

Research paper thumbnail of The choice of epilepsy syndromes for genetic analysis

Epilepsy research. Supplement, 1991

Research paper thumbnail of Reliability of diagnoses — the importance of being honest

Psychiatric Genetics, 1996

Research paper thumbnail of Compulsive Behavior in Generalized Anxiety Disorder and Obsessive-Compulsive Disorder

The Journal of Nervous & Mental Disease, 1999

Close Window. Close Window. Thank you for choosing to subscribe to the eTOC for The Journal of Ne... more Close Window. Close Window. Thank you for choosing to subscribe to the eTOC for The Journal of Nervous and Mental Disease. Enter your Email address: Wolters Kluwer Health may email you for journal alerts and information ...

Research paper thumbnail of Segregation analysis of diastolic blood pressure in a large pedigree

Genetic Epidemiology, 1993

Hypertension, a major risk factor for cardiovascular diseases, is thought to be inherited to some... more Hypertension, a major risk factor for cardiovascular diseases, is thought to be inherited to some extent. However, the nature of its genetic component remains unresolved. In the present study, data from a single large kindred (the HGARl pedigree) were used to search for evidence of single gene and multifactorial effects on diastolic blood pressure. Commingling analyses found that a mixture of three distributions fit the data significantly better than a single normal distribution, suggesting a major effect influencing diastolic blood pressure levels. However, segregation analysis, using regressive models, indicated that the transmission probabilities were not consistent with Mendelian expectations. There was no evidence of either major gene or polygenic effects on diastolic blood pressure levels in this family.

Research paper thumbnail of Genes for salivary proline-rich proteins and taste for phenylthiourea are not closely linked in humans

Cytogenetic and Genome Research, 1988

Research paper thumbnail of Ulnar/fibular ray defect and brachydactyly in a family: a possible new autosomal dominant syndrome

Clinical Dysmorphology, 2003

The ulnar-mammary syndrome (MIM 181450) includes postaxial ray defects, abnormalities of growth, ... more The ulnar-mammary syndrome (MIM 181450) includes postaxial ray defects, abnormalities of growth, delayed sexual development, and mammary and apocrine gland hypoplasia. Brachydactyly type E (MIM 113300) presents with shortening of the metacarpals and phalanges in the ulnar ray in association with moderately short stature. We describe a three-generation family with variable expression of ulnar/fibular hypoplasia, brachydactyly, ulnar ray defects and short stature. The proband had ulnar hypoplasia with missing IV-Vth fingers, fibular hypoplasia on the right, bilateral club feet, growth retardation, a hypoplastic midface, an ASD and hemangiomas. She had normal mammary tissue and normal sweating. The mother had short stature, midfacial hypoplasia, a hypoplastic ulna and hypoplasia of the IVth metacarpal (brachydactyly) on the right without other associated malformations. The maternal grandfather had mild bilateral fibular hypoplasia and midphalangeal brachydactyly of the IV-Vth toes. His sister had mild short stature and shortening of the IVth metacarpal of the left hand. Two-point linkage analysis with microsatellite markers spanning the Ulnar-Mammary locus at 12q24.1 did not confirm linkage. The patients may have a previously undescribed syndrome. Clin Dysmorphol 12:161-165 c 2003 Lippincott Williams & Wilkins.

Research paper thumbnail of Biochemical and genetic analysis of a child with cystic fibrosis and cystinosis

American Journal of Medical Genetics, 1991

We have studied a child with cystic fibrosis (CF), nephropathic cystinosis, and manifestations of... more We have studied a child with cystic fibrosis (CF), nephropathic cystinosis, and manifestations of Bartter syndrome, a finding reported previously in both of these diseases (CF and cystinosis). The chance of an individual inheriting a mutant allele for both CF and cystinosis from each of his parents by independent segregation is very small. Therefore, other mechanisms of inheritance were investigated, including whether his diseases were caused by a chromosome deletion or rearrangement that caused defects in both genes, whether his phenotype was caused by a new mutation or variant of either disease, or whether both diseases were inherited together due to inheritance of 2 copies of the same chromosome from one of the parents (uniparental disomy). An investigation was made of whether having mutations for both CF and cystinosis resulted in a different phenotype for either disease and whether the child was a heterozygote rather than a homozygote for one of the mutations. The results suggest that neither disease influenced the expression of the defect in the other and that this child inherited a mutant allele for both diseases independently from each parent.

Research paper thumbnail of Confirmation of linkage between juvenile myoclonic epilepsy locus and the HLA region of chromosome 6

American Journal of Medical Genetics, 1991

Research paper thumbnail of Complex segregation analysis of obsessive-compulsive disorder in 141 families of eating disorder probands, with and without obsessive-compulsive disorder

American Journal of Medical Genetics, 2000

Probands affected with eating disorders (ED) present a higher number of relatives affected with o... more Probands affected with eating disorders (ED) present a higher number of relatives affected with obsessive-compulsive disorders/tic disorders than a comparison population. Therefore, we hypothesized that ED and obsessive-compulsive disorder (OCD) might share the same biological liability, and that a single major gene might account for that liability. We tested this hypothesis by applying a complex segregation analysis to 141 families of probands affected with ED (89 with anorexia nervosa, restricting and binge-eating types, 52 with bulimia nervosa). Given the hypothesized relationship between OCD and genetic spectrum disorders, we considered these diagnoses as affected phenotype in relatives. In Italian ED families, ED and OCD followed a Mendelian dominant model of transmission. When probands were divided according to codiagnosis of OCD, best fit in the subgroup of families of 114 probands without OCD codiagnosis was for a Mendelian dominant model of transmission whereas a Mendelian additive model of transmission represented best fit in the subgroup of families of 27 probands with an OCD co-diagnosis. Genetic transmission was not shown in those families where the only affected phenotype was ED. The existence of a Mendelian mode of genetic transmission within ED families supports the hypothesis that a common genetic liability could account for both ED and OCD. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:384-391, 2000.

Research paper thumbnail of Neonatal screening for biotinidase deficiency in north eastern italy

European Journal of Pediatrics, 1988

We reviewed the outcome of newborn screening for biotinidase deficiency performed at our departme... more We reviewed the outcome of newborn screening for biotinidase deficiency performed at our department since 1987. Among 1,097,894 newborns screened, 461 were recalled, and 18 were identified as affected by complete or partial biotinidase deficiency (incidence 1:61,000, false positive rate 0.04%). The common missense mutation Q456H was found in 80% of patients with profound biotinidase deficiency. Of them, one patient harbored the novel mutation M399I in compound heterozygosity (M399I/Q456H). The complex allele A171T/D444H in cis was found in two patients with profound biotinidase deficiency (in homozygosity and in compound heterozygosity with the R211H mutation, respectively) and in one patient with partial biotinidase deficiency (in compound heterozygosity with the protective allele D444H in trans). All detected patients were treated and followed up at our Center until present. Biotin therapy (10-20 mg/day) allowed the full prevention of clinical symptoms in all patients with no adverse effects. These excellent outcomes confirm that newborn screening for biotinidase deficiency is a very effective secondary prevention program.

Research paper thumbnail of Sudden Death Associated With Biotinidase Deficiency

Pediatrics, 1987

To the Editor.— We report a case of sudden death in a patient with presumed biotinidase deficienc... more To the Editor.— We report a case of sudden death in a patient with presumed biotinidase deficiency and emphasize the importance of suspecting this diagnosis in patients who present with compatible clinical findings. A nonconsanguineous couple was seen for genetic counseling following the death of their first child, a boy, at 23 months of age. A review of the history revealed that the child was normal until 5½ months of age when seizures developed which were eventually controlled with carbamazepine.