First manifestation of citrullinemia type I as Sandifer syndrome (original) (raw)

Annals of International medical and Dental Research

Here we presented a case of Citrullinemia type 1 in a full term male neonate who presented with an acute catastrophic collapse on the 3rd day of life. The key features of increasingly poor feeding, vomiting and progressive lethargy with or without seizures should quickly direct towards a metabolic origin. This case report also shows the importance of early biochemical and metabolic screening in newborns, to reach an early and definitive diagnosis of IEM and proper management of such cases. .

Case Report Section: Paediatrics Citrullinemia Type 1: A Rare Case

2020

Hyperammonemic Encephalopathy in an Adolescent Patient of Citrullinemia Type 1 With an Atypical Presentation

Cureus, 2021

Citrullinemia refers to a family of autosomal recessive disorders involving the urea cycle. Three forms exist, which have different implications. Type I citrullinemia exists in both mild and severe forms. It arises due to mutations with argininosuccinate synthase leading to accumulation of ammonia and producing symptoms of lethargy, poor feeding, and seizures. Type II citrullinemia occurs due to citrin mutations involved in the urea cycle transport or during neonatal cholestasis. Management of both conditions requires low-protein diets along with arginine, sodium benzoate, and sodium phenylacetate. While traditional treatment shows improved outcomes, modifications may be necessary depending on a patient's presentation. We present a unique case of a 19-year-old wheelchair-bound female with a past medical history of heterozygous type I citrullinemia, seizures, and chronic encephalopathy presented to a local children's hospital for evaluation of altered mental status with a lethargic mental state. She was initially found to have an ammonia level of 329 µmol/L and choledocholithiasis on admission. Dietary modification with intravenous dextrose and intralipids with oral lactulose saw improvement in her labs. However, her ammonia level increased to 381 µmol/L despite such interventions. Intensive care was required to normalize her serum ammonia level and clear her for a magnetic resonance cholangiopancreatography (MRCP). We present a unique case of heterozygous type I citrullinemia with some overlap with type II citrullinemia features. Further studies are needed to understand better the observed unique presentation and long-term clinical implications associated with the disease.

CT Findings in the Infantile Form of Citrullinemia

2000

Summary: Citrullinemia is a rare autosomal recessive in- born error of the urea cycle due to a deficiency in argini- nosuccinic acid synthetase. We present two cases of the infantile form of citrullinemia in which CT revealed bilat- eral and symmetric corticosubcortical hypoattenuating ar- eas, ulegyric changes, and atrophy in the frontal lobes, as well as atrophy in the gyrus

Citrullinemia with an atypical presentation: Paroxysmal hypoventilation attacks

Journal of Pediatric Neurosciences, 2018

Citrullinemia type 1 (CTLN1) is a rare inherited urea cycle disorder, which resulted from the deficiency of argininosuccinate synthetase enzyme. We presented an infant who was hospitalized because of acute losses of tonus and cyanotic hypoventilation attacks lasting approximately 4-5min. The physical and neurological examinations were normal. Ammonia level was in the normal range. Citrulline levels increased in both blood and urine. The blood sample was sent to mutation analysis, which showed one novel and one known mutation on ASS1 gene sequencing: a heterozygous novel mutation p.A94V (c.281C>T) and a heterozygous mutation p.W179R (c.535C>T). Urea cycle disorders should be considered in the differential diagnosis of unexplained brief apnea or hypoventilation attacks, even though those symptoms do not lead to hyperammonemia during infancy and childhood as seen in our patient. This is the first case in terms of atypical clinical presentation with a new mutation for CTLN1.

Clinical, laboratory data and outcomes of 17 Iranian citrullinemia type 1 patients: Identification of five novel ASS1 gene mutations

JIMD Reports, 2022

Citrullinemia type 1 is an autosomal recessive metabolic disease caused by ASS1 gene mutations encoding argininosuccinic acid synthetase enzyme which is within the pathway of arginine and nitric oxide biosynthesis. Disease confirmation was done by ASS1 gene mutation analysis using next-generation sequencing, DNA Sanger sequencing. The study group was 17 citrullinemia type 1 patients from 10 unrelated families referred to Iranian National Society for Study on Inborn Errors of Metabolism's clinic between 2008 and 2020. Clinical, laboratory, and molecular data were retrospectively evaluated. Eleven different ASS1 gene mutations were detected in 13 (76%) of 17 neonatal, three (18%) of 17 late infantile, and one (6%) of 17 asymptomatic patients. Severe developmental delay and intractable seizures despite metabolic control was outcome of neonatal form survivor. Two late infantile form patients live metabolically controlled with quite normal performance. DNA mutations are as follows: seven missense, one nonsense, and two insertion/deletion mutations in 12, two, and three patients, respectively. Five novel mutations were detected including a homozygous GG deletion in exon 12 (c.790_791delGG;p. Gly264Profs*3) and a homozygous mutation in exon 7 (c.440C>T; p. Met147Thr), both causing infantile (late onset) form; a homozygous mutation in exon 6 (c.1130T>C; p.Met376Thr) causing neonatal form; two compound heterozygote mutations in exon 14 (c.1167_1168insC:p.Gly390Argfs*22& c.1186T>A; p.Ser396Thr) causing asymptomatic form. Five (38%) patients with classic neonatal form had mutation in exon 14 of ASS1 (c.1168G>A; p. Gly390Arg). Classic neonatal was the most common form of disease in

Phenotype and Genotype Heterogeneity in Mediterranean Citrullinemia

Molecular Genetics and Metabolism, 2001

We summarize the diagnosis, outcome, and molecular studies of five Mediterranean patients with citrullinemia: four neonatal classical forms and one subacute form, who also suffers from Down syndrome and presented with severe hepatic encephalopathy at age 7. Mutational analysis revealed three alleles with a common mutation and five new mutations: two Moroccan siblings are homozygous for G390R, the subacute form is compound heterozygous for G390R/G117D (new mutation), and the two other neonatal forms are compound heterozygous for four new mutations: V69A/E270Q and T119I(R108L)/?.

Case Report: Infant with Citrullinemia Type I and Thrombosis

EC Paediatrics, 2021

Citrullinemia type I (CTLN1) is a disorder that belongs to Urea Cycle Disorders (UCDs). Although thromboembolic complications have already been reported in others UCDs, mostly Ornithine transcarbamylase (OTC) deficiency, there are not yet reports for CTLN1. We describe a patient with CTLN1 treated in our Hospital who developed two episodes of catheter-related venous thrombosis. Amongst endogenous and exogenous prothrombotic risk factors, low plasma arginine (L-Arginine, L-Arg) levels were observed. L-Arg deficiency resulting in NO insufficiency may contribute as a key factor for thrombogenesis in these patients. The aim of this article is to discuss the existence of prothrombotic risk factors in patients with CTLN1 and raise awareness on other metabolic complications that accompanies hyperammonia, such as L-Arg deficiency that leads to vascular thrombosis, causing long-term hospitalization and high morbidity.

Novel Compound Heterozygote Mutations of the SLC25A13 Gene in an Infant with Neonatal-onset Type II Citrullinemia Detected by Newborn Mass Screening

Journal of the Korean Society of Neonatology, 2011

Citrin deficiency caused by the SLC25A13 gene mutations is associated with both neonatal-onset type II citrullinemia (CTLN2), also known as neonatal intrahepatic cholestasis caused by citrin deficiency and adult-onset CTLN2. Neonatal-onset CTLN2 is an autosomal recessive disorder characterized by poor growth, intrahepatic cholestasis, and increased serum citrulline. A 16-days old infant with hyperammonemia was referred for evaluation of increased plasma citrulline diagnosed using tandem mass spectrometry. Blood amino acid analysis showed significant elevation of citrulline. Mild elevation in serum galactose levels had been found. DNA analysis of the SLC25A13 gene in this patient showed two novel compound heterozygous mutations, c.221C>T in exon4 and c.1645C in exon16 (p.[Ser74Phe]+[Gln549X]). We suggest that infants with a high serum citrulline level on a tandem mass screening test are candidates for gene analysis and blood amino acid analysis for neonatal-onset CTLN2.

First manifestation of citrullinemia type I as Sandifer syndrome (original) (raw)

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