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 |
163 |
| Diagnosis |
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 311250) |
| Gender |
m |
| Age of symptoms onset |
7 Day(s) |
| Age of diagnosis |
9.00 Day(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: German, Father: German |
| History |
After normal pregnancy, birth and first days of life without any problems, the infant became lethargic at the fifth day. At the age of seven days, the boy was hospitalized because of weight loss of 600g , increasing apathy and tachydyspnea. Hyperammonemia of 450 5mol/l, highly increased glutamine and alanine, decreased citrulline in serum, and increased excretion of glutamine, alanine, uracil and orotic acid in urine led to the diagnosis of an OTC-deficiency. Mutational analysis confirmed the diagnosis. Unfortunately, the mother was found to be a carrier.
IQ of 100 (01/ 2003) |
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| Author |
Friedrich Trefz |
| Hospital |
Childrens Hospital Reutlingen |
| Coauthor(s) |
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| Date of entry |
2001-03-31 00:00:00 |
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