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Ornithine carbamoyltransferase deficiency presenting with chorea in a female

✍ Scribed by E. J. Wiltshire; N. K. Poplawski; M. G. Harbord; R. J. Harrison; J. M. Fletcher

Book ID
111568067
Publisher
Springer
Year
2000
Tongue
English
Weight
36 KB
Volume
23
Category
Article
ISSN
0141-8955

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πŸ“œ SIMILAR VOLUMES

Hyperammonemia caused by impaired mitoch
Hyperammonemia caused by impaired mitochondrial ornithine transport in a patient with partial quantitative deficiency of ornithine carbamoyltransferase
✍ Tateo Kuno; Sumio Miyazaki; Ituro Inoue; Takeyori Saheki πŸ“‚ Article πŸ“… 1990 πŸ› Elsevier Science 🌐 English βš– 423 KB

Late-onset hyperammonemia was observed in a male patient with partial quantitative deficiency of ornithine carbamoyltransferase (OCT). His liver contained 10% of the normal level of OCT, but with normal kinetics. This reduced enzyme activity alone, however, could not explain the hyperammonemia. Ther