Main data
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Molecular genetics
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Lab findings
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Symptoms
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Diet/drugs
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Therapy/development
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References
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Disease information
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Gene information
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Pathway information
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Substance information
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 Data management
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| Patient ID |
305 |
| Diagnosis |
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 311250) |
| Gender |
f |
| Age of symptoms onset |
5 Year(s) |
| Age of diagnosis |
11.00 Year(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: German, Father: German |
| History |
The 11 years old girl went into hyperammonemic coma after drinking a special "body building" protein-rich diet. This led to the diagnosis of a heterozygot OTC deficiency. The neurologic outcome was poor despite therapy including hemodialysis.
Monatsschr Kinderheilk 2000; 148:997-1000 |
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| Author |
Published Cases |
| Hospital |
Published Case |
| Coauthor(s) |
v. Buch C, Hoppe B, Luechtrath M, Wendel U, Keuth B, Vierzig A, Roth B |
| Date of entry |
2001-08-07 08:26:58 |
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