F. Rohr - Academia.edu (original) (raw)

Papers by F. Rohr

ICAN: Infant, Child, & Adolescent Nutrition, 2010

The objective of this study was to determine the change in blood phenylalanine (Phe; mg/dL) as a ... more The objective of this study was to determine the change in blood phenylalanine (Phe; mg/dL) as a marker for metabolic control in 18 children ages 7 to 15 years with classical phenylketonuria (PKU) attending a 5-day summer overnight camp in Sandwich, Massachusetts, in 2003. The authors validated their results with a group of 20 children who attended camp in 2002. The mission was to provide children with a camp experience in which their diet was facilitated by the staff. The children were encouraged to take responsibility for their dietary management with minimal direct intervention. Blood samples were collected on filter papers for analysis by tandem mass spectroscopy on the first and last evenings of camp. Mean blood Phe at the beginning of camp was 8.8 mg/dL (SD = 4.5), and the final Phe was 4.6 mg/dL (SD = 2.5; mean difference = 4.2; 95% confidence interval: 2.6, 5.8). This difference is both clinically and statistically significant (P < .0001). Prior year results validated the authors’ findings. Short-term effects of the camp environment resulted in improved metabolic control. Factors speculated as attributing to this improvement include decreased barriers to dietary compliance (variety of readily available low-protein foods, reinforcement of diet through recording intake in diet record books, increased acceptance of the diet because of a large number of other campers also with PKU) and readily available staff to assist with diet adherence.

Journal of the American Dietetic Association, 1997

The Journal of Pediatrics, 1986

European Journal of Pediatrics, 1996

Maternal weight gain and intake of selected nutrients were correlated with plasma phenylalanine (... more Maternal weight gain and intake of selected nutrients were correlated with plasma phenylalanine (Phe) concentrations and reproductive outcomes (in 150 and 142 subjects respectively) in the Maternal PKU Collaborative Study. Daily protein intake was negatively correlated with plasma Phe concentration. Birth length, weight and head circumference of offspring were negatively influenced by the length of time required for the maternal plasma Phe to decline below 600 ~tmol/1 (10 mg/dl) and positively influenced by weight gain of mother as a percentage of recommended weight gain. Birth weight and length were positively correlated with maternal protein and energy intakes. During the first trimester, intakes of fat, calcium, phosphorus, vitamin A and fo-late were significantly greater in women who had a good reproductive outcome than by women who had a poor outcome. In addition to plasma Phe control in maternal phenylketonuria (PKU), maternal weight gain and dietary intake of protein, energy and fat were correlated with outcome. Therefore, nutrient intake and maternal weight gain should be considered along with plasma Phe concentration when managing the therapy of a pregnant woman with PKU.

JIMD reports, Jan 25, 2015

Maternal phenylketonuria (MPKU) is a well-recognized complication of PKU and one of the most pote... more Maternal phenylketonuria (MPKU) is a well-recognized complication of PKU and one of the most potent teratogenic syndromes of pregnancy. Virtually all offspring from untreated pregnancies in women with classic PKU have intellectual disabilities and microcephaly. Congenital heart disease and intrauterine growth retardation occur many times more often than expected in the general population. Control of maternal blood phenylalanine during pregnancy prevents most if not all of these complications. Previous studies demonstrated the benefits of treatment in terms of birth parameters and early development. In this study, physical examinations, a medical history, and neuropsychological evaluation were obtained in 47 children from 24 mothers with PKU who received treatment during pregnancy. Mothers were interviewed and administered an abbreviated IQ test. Associations between maternal factors and offspring outcomes were also analyzed.The 21 male and 26 female offspring ranged in age from 1 mo...

Osteoporosis International, 2013

This study evaluated bone health in adults with galactosemia. Associations between bone mineral d... more This study evaluated bone health in adults with galactosemia. Associations between bone mineral density (BMD) and nutritional and biochemical variables were explored. Calcium level predicted hip and spine BMD, and gonadotropin levels were inversely associated with spinal BMD in women. These results afford insights into management strategies for these patients. Introduction Bone loss is a complication of galactosemia. Dietary restriction, primary ovarian insufficiency in women, and disease-related alterations of bone metabolism may contribute. This study examined relationships between clinical factors and BMD in patients with galactosemia. Methods This cross-sectional sample included 33 adults (16 women) with classic galactosemia, mean age 32.0± 11.8 years. BMD was measured by dual-energy X-ray absorptiometry, and was correlated with age, height, weight, fractures, nutritional factors, hormonal status, and bone biomarkers. Results There was a significant difference in hip BMD between women and men (0.799 vs. 0.896 g/cm 2 , p00.014). The percentage of subjects with BMD-Z <−2.0 was also greater for women than men [33 vs. 18 % (spine), 27 vs. 6 % (hip)], and more women reported sustaining fractures. Bivariate analyses yielded correlations between BMI and BMD-Z [at the hip in women (r 00.58, p < 0.05) and spine in men (r 00.53, p<0.05)]. In women, weight was also correlated with BMD-Z (r00.57, p<0.05 at hip), and C-telopeptides (r0−0.59 at spine and −0.63 hip, p<0.05) and osteocalcin (r0−0.71 at spine and −0.72 hip, p<0.05) were inversely correlated with BMD-Z. In final regression models, higher gonadotropin levels were associated with lower spinal BMD in women (p00.017); serum calcium was a significant predictor of hip (p00.014) and spine (p00.013) BMD in both sexes. Conclusions Bone density in adults with galactosemia is low, indicating the potential for increased fracture risk, the etiology of which appears to be multifactorial.

Journal of the American Dietetic Association, 1994

The Journal of Pediatrics, 1987

Four women with classic phenylketonuria (blood phenylalanine >t200 t~mol/L) were given a phenylal... more Four women with classic phenylketonuria (blood phenylalanine >t200 t~mol/L) were given a phenylalanine-restricted diet; three also received L-tyrosine supplements. Biochemical measures of nutrition were normal except for iron deficiency anemia, and in one woman folate deficiency. One pregnancy in which treatment began before conception and another treated from 8 weeks gestation, both with blood phenylalanine levels maintained at t20 to 730 ~mol/L, resulted in normal newborn infants whose postnatal growth and development have also been normal. A third pregnancy, treated from 6 gestational weeks, was marked by poor dietary compliance until the middle of the second trimester; fetal microcephaly was identified by ultrasonography at 28 weeks but not at 21 weeks. The child has microcephaly and motor delay. The fourth pregnancy, not treated until the third trimester, produced a child with microcephaly, mental retardation, hyperactivity, and neurologic deficits. It is likely that fetal damage from maternal phenylketonuria can be largely and perhaps entirely prevented by dietary therpay, but therapy must begin before conception for the best chance of a normal infant. (J PEDIATR 1987;110:391-8)

Journal of Pediatric Gastroenterology and Nutrition, 2001

Journal of Inherited Metabolic Disease, 1991

Maternal phenylketonuria (PKU, McKusick 26160), if untreated, has deleterious effects on the fetu... more Maternal phenylketonuria (PKU, McKusick 26160), if untreated, has deleterious effects on the fetus resulting in growth retardation, microcephaly, mental retardation, miscarriages, and cardiac anomalies . A prospective national Maternal PKU Collaborative Study (MPKUCS) has been underway in the United States and Canada aimed at establishing whether early dietary intervention prior to or during pregnancy can prevent the deleterious effects of maternal PKU. The purpose of this report is to correlate nutrient intake and blood phenylalanine levels to birth measurements.

Journal of Inherited Metabolic Disease, 2000

Women with phenylketonuria (PKU) must follow a strict low-phenylalanine diet during pregnancy in ... more Women with phenylketonuria (PKU) must follow a strict low-phenylalanine diet during pregnancy in order to protect the fetus from the deleterious e¡ects of high maternal blood phenylalanine. The Resource Mothers Study of Maternal PKU was undertaken to determine whether a home visitation programme was e¡ective in helping women with PKU attain blood phenylalanine control earlier during pregnancy. Resource Mothers were trained to provide social support and practical assistance to women with PKU during pregnancy. Eight metabolic clinics in the United States participated in the study. Women with PKU who were planning pregnancy or already pregnant were enrolled in the study and were treated with a low-phenylalanine diet aimed at controlling blood phenylalanine to 120^360 mmol/L. They were randomly assigned to receive the services of a Resource Mother (RM group) or to a control group. Fifty women were enrolled, and accounted for 44 pregnancies which resulted in 28 live births, and 6 spontaneous abortions. Ten women are currently pregnant and another 6 have not become pregnant. Fifty-six percent of enrolled women began the diet prior to becoming pregnant. Fifty-three percent of women in the Resource Mother group were in metabolic control by 10 weeks gestation as compared to 39% in the control group. In addition, women who began diet after pregnancy and had a Resource Mother attained metabolic control earlier (mean gestational age of 22.4 weeks in the RM group vs 29.8 weeks in the control group). There was no di¡erence in birth measurement z-scores of o¡spring born to women in the

Annals of the New York Academy of Sciences, 1993

Journal of Parenteral and Enteral Nutrition, 2014

Maple syrup urine disease (MSUD) (OMIM 248600) is an inherited disorder in metabolism of the bran... more Maple syrup urine disease (MSUD) (OMIM 248600) is an inherited disorder in metabolism of the branched-chain amino acids (BCAA), leucine, isoleucine, and valine, caused by deficient activity of one of the proteins in the branched-chain α-ketoacid dehydrogenase complex (BCKDC). Plasma and urine concentrations of BCAA and allo-isoleucine are markedly increased, and their branched-chain ketoacid analogues appear in urine. The treatment for MSUD is a diet restricted in BCAA that controls these abnormalities. Metabolic crisis characterized by ketoacidosis can develop rapidly at any age, precipitated by catabolism due to intercurrent illness, surgery, or physiological stress, or by excessive intake of BCAA. The toxic metabolite is leucine. Leucine intoxication is associated with ketosis and the risk of cerebral edema and requires aggressive nutrition therapy using enteral or parenteral BCAA-free protein with high energy intake to promote removal of toxic metabolites, reduce catabolism, and promote anabolism, in effect promoting the net incorporation of BCAA into protein.