J Clin Endocrinol Metab. 1979 Mar;48(3):388-92.

Atypical clinical course of ornithine transcarbamylase deficiency due to a new mutant (comparison with Reye's disease).

Abstract

A male infant with ornithine transcarbamylase (OTC) deficiency is described who was relatively symptom free for 4 months, gradually developed severe spasticity due to cerebral atrophy, and died at 13 months of age. Liver OTC activity was 1.5% of the normal mean. The mutant OTC showed an increased apparent Km for ornithine and an increased pH optimum. These kinetic findings fail to explain the atypical clinical course. The clinical picture of patients with genetic OTC deficiency who present during acute exacerbations together with the elevation of serum glutamic oxaloacetic transaminase and microvesicular fat accumulation in liver, as seen in this case, may suggest Reye's syndrome; however, electronmicroscopic examination of this patient suggested that the normal appearance of mitochondria helps to distinguish the two.

PMID:: 429491; [PubMed - indexed for MEDLINE]

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Transiently reduced activity of carbamyl phosphate synthetase and ornithine transcarbamylase in liver of children with Reye's syndrome. [N Engl J Med. 1976]
Transiently reduced activity of carbamyl phosphate synthetase and ornithine transcarbamylase in liver of children with Reye's syndrome.
Brown T, Hug G, Lansky L, Bove K, Scheve A, Ryan M, Brown H, Schubert WK, Partin JC, Lloyd-Still J. N Engl J Med. 1976 Apr 15; 294(16):861-7.
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Cited by 3 PubMed Central articles

Neurological features and computed tomography of the brain in children with ornithine carbamoyl transferase deficiency. [J Neurol Neurosurg Psychiatry....]
Neurological features and computed tomography of the brain in children with ornithine carbamoyl transferase deficiency.
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Reye's syndrome in an adult patient. [West J Med. 1986]
Reye's syndrome in an adult patient.
Kirkpatrick DB, Ottoson C, Bateman LL. West J Med. 1986 Feb; 144(2):223-5.
Late onset ornithine carbamoyl transferase deficiency in males. [Arch Dis Child. 1988]
Late onset ornithine carbamoyl transferase deficiency in males.
Drogari E, Leonard JV. Arch Dis Child. 1988 Nov; 63(11):1363-7.

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