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) |
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Pages (from-to) | 538-542 |
Number of pages | 5 |
Journal | Clinical Genetics |
Volume | 25 |
Issue number | 6 |
DOIs | |
State | Published - Jun 1984 |
Externally published | Yes |
Keywords
- Hyperammonemia
- ornithine transcarbamylase (OTC)
- orotic acid
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)