Partial ornithine transcarbamylase deficiency associated with recurrent hyperammonemia, lethargy and depressed sensorium

Jun Oizumi; Won G. Ng; Richard Koch; Kenneth N.F. Shaw; Lawrence Sweetman; Antonio Velazquez; George N. Donnell

doi:10.1111/j.1399-0004.1984.tb00498.x

Partial ornithine transcarbamylase deficiency associated with recurrent hyperammonemia, lethargy and depressed sensorium

Jun Oizumi, Won G. Ng, Richard Koch, Kenneth N.F. Shaw, Lawrence Sweetman, Antonio Velazquez, George N. Donnell

Research output: Contribution to journal › Article › peer-review

15 Scopus citations

Abstract

A 6‐year‐old boy presented with recurrent coma associated with hyperammonemia and infection is reported. A liver biopsy revealed decreased ornithine transcarbamylase (OTC) activity (16% of normal). The enzymatic abnormality in the child is supported by the finding of elevated orotic acid excretion in his mother following a protein load, compatible with an X‐linked pattern of inheritance. Since initiation of a dietary arginine supplement, the child has not had recurrent episodes of hyperammonemia.

Original language	English (US)
Pages (from-to)	538-542
Number of pages	5
Journal	Clinical Genetics
Volume	25
Issue number	6
DOIs	https://doi.org/10.1111/j.1399-0004.1984.tb00498.x
State	Published - Jun 1984
Externally published	Yes

Keywords

Hyperammonemia
ornithine transcarbamylase (OTC)
orotic acid

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1111/j.1399-0004.1984.tb00498.x

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title = "Partial ornithine transcarbamylase deficiency associated with recurrent hyperammonemia, lethargy and depressed sensorium",

abstract = "A 6‐year‐old boy presented with recurrent coma associated with hyperammonemia and infection is reported. A liver biopsy revealed decreased ornithine transcarbamylase (OTC) activity (16% of normal). The enzymatic abnormality in the child is supported by the finding of elevated orotic acid excretion in his mother following a protein load, compatible with an X‐linked pattern of inheritance. Since initiation of a dietary arginine supplement, the child has not had recurrent episodes of hyperammonemia.",

keywords = "Hyperammonemia, ornithine transcarbamylase (OTC), orotic acid",

author = "Jun Oizumi and Ng, {Won G.} and Richard Koch and Shaw, {Kenneth N.F.} and Lawrence Sweetman and Antonio Velazquez and Donnell, {George N.}",

year = "1984",

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T1 - Partial ornithine transcarbamylase deficiency associated with recurrent hyperammonemia, lethargy and depressed sensorium

AU - Oizumi, Jun

AU - Ng, Won G.

AU - Koch, Richard

AU - Shaw, Kenneth N.F.

AU - Sweetman, Lawrence

AU - Velazquez, Antonio

AU - Donnell, George N.

PY - 1984/6

Y1 - 1984/6

N2 - A 6‐year‐old boy presented with recurrent coma associated with hyperammonemia and infection is reported. A liver biopsy revealed decreased ornithine transcarbamylase (OTC) activity (16% of normal). The enzymatic abnormality in the child is supported by the finding of elevated orotic acid excretion in his mother following a protein load, compatible with an X‐linked pattern of inheritance. Since initiation of a dietary arginine supplement, the child has not had recurrent episodes of hyperammonemia.

AB - A 6‐year‐old boy presented with recurrent coma associated with hyperammonemia and infection is reported. A liver biopsy revealed decreased ornithine transcarbamylase (OTC) activity (16% of normal). The enzymatic abnormality in the child is supported by the finding of elevated orotic acid excretion in his mother following a protein load, compatible with an X‐linked pattern of inheritance. Since initiation of a dietary arginine supplement, the child has not had recurrent episodes of hyperammonemia.

KW - Hyperammonemia

KW - ornithine transcarbamylase (OTC)

KW - orotic acid

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ER -

Partial ornithine transcarbamylase deficiency associated with recurrent hyperammonemia, lethargy and depressed sensorium

Abstract

Keywords

ASJC Scopus subject areas

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