Hyperammonaemia. A variant type of deficiency of liver ornithine transcarbamylase.

Levin, B.; Dobbs, R. H.; Burgess, E. Ann; Palmer, Trevor

doi:10.1136/adc.44.234.162

Cited by 66 publications

(16 citation statements)

References 13 publications

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“…Male adults with Reye syn drome have been reported [36], Mechanisms whereby an exceptional male patient with OTC deficiency might sur vive infancy are not clear. A majority of patients presenting late have had relatively high residual activities of OTC; when as sayed at neutral pH, the reported range was from 2 [18] to over 25% [3,11] of control means. An OTC activity of 2-5% [37], or up to 10% [38] of the maximal in vitro activity, is sufficient to maintain normal urea forma tion in vivo.…”

Section: Discussionmentioning

confidence: 99%

“…riod, and the initial episode is usually fa tal [2], A few male patients with enzyme variants survive neonatal period and early infancy and develop clinical signs of hyperammon emia in late infancy or childhood [3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21], In none of these patients was the onset of symp toms delayed until late childhood.…”

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confidence: 99%

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Ornithine Transcarbamylase Deficiency in Male Adolescence and Adulthood

Yoshino¹,

Nishiyori²,

Yamashita³

et al. 1990

Enzyme

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A discrete deficiency of hepatic ornithine transcarbamylase (OTC) was found in male patients who were 58, 46 and 17 years old. Each had developed hyperammonemic coma. The mother and a sister of the 17-year-old patient exhibited orotic aciduria either spontaneously or after protein loading, thus demonstrating heterozygosity. A sister of one other patient and a daughter of the third patient showed a smaller orotic aciduria after protein loading. These observations indicate that inherited deficiency of OTC should be included in the differential diagnosis of hyperammonemic states in adult male patients.

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Section: Discussionmentioning

confidence: 99%

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confidence: 99%

Ornithine Transcarbamylase Deficiency in Male Adolescence and Adulthood

Yoshino¹,

Nishiyori²,

Yamashita³

et al. 1990

Enzyme

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“…Enzyme variants producing less severe clinical manifestations have been reported (Levin et al, 1969a;MacLeod et al, 1972;Cathelineau et al, 1974;Saudubray et al, 1975;Van der Heiden et al, 1977). Female heterozygotes have varying amounts of residual enzyme activity depending on the relative proportions of functionally active X-chromosomes bearing the mutant or normal gene (Hsia, 1974;Palmer et al, 1974).…”

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confidence: 93%

Carrier detection in ornithine transcarbamylase deficiency

Haan

Danks

Grimes

et al. 1980

J of Inher Metab Disea

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We have studied six known heterozygotes for ornithine transcarbamylase (McKusick 31125; OTC) deficiency. All had abnormal results when tested by measurement of urine orotic acid after protein loading. Duodenal mucosa OTC assay detected fewer of the known heterozygotes but was a useful supplementary test. Urine orotic acid excretion after protein loading is influenced by age and results from women being tested must be compared with those from controls of appropriate age.

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“…Ammonia determination after oral administration of ammonium lethal in males and results in a variable degree of clinichloride has also been employed to detect the carrier cal severity in affected females 114-7, 12-15, 22-26, 291. state, but the validity of this procedure is subject to The only male in which the disorder has not been fatal the variability intrinsic to the assay of ammonia.' Beapparently had a variant form of the disease [14].…”

Section: Introductionmentioning

confidence: 99%

Metabolic and Genetic Studies of a Family with Ornithine Transcarbamylase Deficiency

et al. 1974

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ExtractW e have described a patient with ornithine transcarbamylase (OTC) deficiency.T h e clinical course and pedigree substantiate the X-linked transmission of the defect with varying degrees of illness in females. Because orotic aciduria accompanied hyperammonemia in the patient, orotic acid was measured as an indication of a partial OTC deficiency after ammonia and protein loading in members of the patient's family. Both the mother, a n obligate carrier, and an aunt, the only symptomatic female in this pedigree, had hyperammonemia after the ingestion of ammonium chloride. They also had significant orotic aciduria after a protein load as did the two female cousins whose ammonium tolerance was normal. T h e maternal grandmother excreted a large amount of orotic acid in her urine relatively consistently. 'These data suggest that the two female cousins and the maternal grandmother are asymptomatic female heterozygotes despite their normal ammonium loading tests. SpeculationProtein loading in the form of a relatively palatable and innocuous meal, followed by determination of orotic acid content in urine, may prove to be a sensitive, noninvasive, and easy means to identify female carriers of ornithine transcarbamylase deficiency.

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Hyperammonaemia. A variant type of deficiency of liver ornithine transcarbamylase.

Cited by 66 publications

References 13 publications

Ornithine Transcarbamylase Deficiency in Male Adolescence and Adulthood

Ornithine Transcarbamylase Deficiency in Male Adolescence and Adulthood

Carrier detection in ornithine transcarbamylase deficiency

Metabolic and Genetic Studies of a Family with Ornithine Transcarbamylase Deficiency

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