Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042963 (vomiting)
 31,883 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Argininosuccinate lyase deficiency is a urea cycle disorder which can present in the neonatal period with hyperammonemic encephalopathy, or later in childhood with episodic vomiting, growth and developmental delay. Abnormal hair, hepatomegaly, and hepatic fibrosis are unique features of this disorder. Twelve patients with argininosuccinate lyase deficiency were ascertained between 4 and 6 weeks of age by urine amino acid screening. One infant in a previously identified family was diagnosed shortly after birth. Diagnosis was confirmed by enzyme assay in red blood cells and/or skin fibroblasts. At the time of last follow-up, patients had been followed for 13-33 years. All patients were asymptomatic at detection, 7 had slightly increased blood ammonia, and all were initially treated with low-protein diet. Utilization of (14)C-citrulline by intact skin fibroblasts measured by (14)C incorporation into macromolecules was 74-135% of the control mean for 7 of the 8 patients studied. Nine patients had normal development, 4 had learning disability, 6 had EEG abnormalities, 3 had seizure disorder. None had any episodes of hyperammonemic coma. None had hepatomegaly. Patients detected by screening had higher enzyme activity measured by the (14)C-citrulline incorporation assay than comparison groups of patients with neonatal-onset and with late-onset detected by clinical disease. The ability to utilize (14)C-citrulline by intact fibroblasts seems to correlate with clinical outcome and may have prognostic value. It is likely that early diagnosis and treatment contributed to the relatively mild clinical course of the study group.
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PMID:Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening. 1963 76

In some inherited metabolic diseases, in particular in urea cycle disorders, which are usually diagnosed in neonatal period or in childhood, vomiting is often the first symptom. We report a case of late revelation of urea cycle disorder in a 13 years old female patient hospitalized for convulsions and failure to thrive. The patient underwent an interview revealing chronic vomiting associated with behavioral disorders, ideomotor slowdown and headaches. Clinical examination showed ataxia. Lumbar puncture and head CT scan were normal. The patient had substantially elevated blood ammonia level at 75 micromoles/L (11-50). Chromatography of amino acids in the blood showed increased glutamine and alanine. Chromatography of amino acids in the urine showed increased basic amino acids evoking a deficit of the urea cycle due to deficit of the enzyme argininosuccinate lyase. The patient was treated as an emergency, exclusively with glycolipid-diet and sodium benzoate, allowing improvement of patient's clinical condition and weight resumption. The seizures were controlled by phenobarbital. Family interview revealed that patient's sister, aged 20 years, had a 3-year history of seizures treated with phenobarbital. She underwent metabolic assessment in our department, which showed the same urea cycle abnormality as hes sister. Urea cycle deficiency should be suspected in patients of any age with encephalopathy associated with epilepsy, vomiting, weight stagnation and hyperammonemia. The diagnosis is very often made during severe neurodigestive attack involving vomiting, attack and/or seizures.
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PMID:[Vomiting associated with weight stagnation and convulsions: urea cycle disorder should be suspected]. 3103 64