Familial Protein Intolerance
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Abstract:
Thirteen cases of "familial protein intolerance," a hereditary defect in ammonium ion metabolism, have occurred in Finland. The nature of the metabolic defect has remained obscure. In a patient displaying clinical and biochemical features of "familial protein intolerance," but without documented familial occurrence, the main clinical features were intellectual impairment, with x-ray evidence of brain atrophy, and marked skeletal fragility. Intolerance to protein-containing foods was moderate. The postprandial blood ammonia concentration was moderately elevated, whereas intravenous L-alanine administration caused marked ammonia elevation as well as marked hyperglycemia. Biochemical findings indicated a defect in the mechanisms transferring amino nitrogen to the urea-synthesizing system.Keywords:
Hyperammonemia
Ammonia is a toxic compound produced in the body from the catabolism of amino acids and protein. Hyperammonemia can damage muscle and brain.1 The body converts ammonia to urea in the liver by means of the urea-cycle enzymes, and the urea so generated is subsequently eliminated in the urine as nitrogenous waste. This essential process is necessary for the maintenance of health.Metabolic disorders are associated with a defect or deficiency of each of the six enzymes in the urea cycle (Figure 1). These inborn errors of metabolism disrupt the normal processing of ammonia and result in hyperammonemia. In the . . .
Hyperammonemia
Catabolism
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Hyperammonemia
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Hyperammonemia
Carbamoyl phosphate synthetase
Glutamic acid
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Hyperammonemia
Detoxification
Primary (astronomy)
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Deficiency of any of the 5 enzymes in the urea cycle results in the accumulation of ammonia, leading to encephalopathy; which if untreated, can be lethal and produce devastating neurologic sequelae in long-term survivors. We hereby present an interesting case that presented with hyperammonemia and encephalopathy; later found to have an urea cycle defect.
Hyperammonemia
Hepatic Encephalopathy
Metabolic disorder
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Hyperammonemia
Pathophysiology
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Hyperammonemia
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Hyperammonemia
Detoxification
Hepatic Encephalopathy
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The body metabolizes ammonia in the Krebs-Henseleit urea cycle. In hyperammonemia, either congenital or secondary to cirrhosis, this cycle does not function efficiently. Children with cycle defects have abnormal ammonia tolerance tests, amino-aciduria and atypical electroencephalograms. Amino acid chromatography of urine will detect congenital hyperammonemia.
Hyperammonemia
Amino acid metabolism
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Hyperammonemia
Carbamyl Phosphate
Carbamoyl phosphate synthetase
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