A 7 1/2-year-old boy had progressive psychomotor retardation, behavior disturbance, and spasticity, and had growth arrest from age three. Plasma arginine on a self-selected protein-poor diet was increased (4.05 mg/dl; nl 0.4 to 2.6), whereas urinary amino acid excretion was normal. Red blood cell arginase was less than 1% of normal in the patient and was half normal in both parents, in two normal siblings, and in his paternal grandfather. Three hours after a meal providing 2 gm protein/kg body weight, the plasma arginine value rose to 13.2 mg/dl, dibasic aminoaciduria was seen clearly for the only time, but blood ammonia concentration remained normal. We conclude that arginase deficiency in the red blood cells and probably in the liver is inherited in an autosomal recessive manner and is responsible for the clinical syndrome in this patient.
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Evidence ID | Analyze ID | Gene/Complex | Systematic Name/Complex Accession | Qualifier | Gene Ontology Term ID | Gene Ontology Term | Aspect | Annotation Extension | Evidence | Method | Source | Assigned On | Reference |
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Evidence ID | Analyze ID | Interactor | Interactor Systematic Name | Interactor | Interactor Systematic Name | Allele | Assay | Annotation | Action | Phenotype | SGA score | P-value | Source | Reference | Note |
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Complement ID | Locus ID | Gene | Species | Gene ID | Strain background | Direction | Details | Source | Reference |
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Evidence ID | Analyze ID | Dataset | Description | Keywords | Number of Conditions | Reference |
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