Logo Need help?
Guest >> Login
Data Management

Case report
Main data  Main data
Molecular genetics  Molecular genetics
Lab findings  Lab findings
Symptoms  Symptoms
Diet/drugs  Diet/drugs
Therapy/development  Therapy/development
References  References

Related data
disease Information  Disease information
Genetic Information  Gene information
Information about metabolic pathways  Pathway information
Substance information  Substance information

Go back to ...
Patient case report | Main data
Patient ID 626
Gender m
Age of symptoms onset 0 Day(s)
Age of diagnosis 0.00 Day(s)
Found in newborn screening n
Diagnosis confirmed y
Country Germany
Ethnic origin Mother: Turkish, Father: Turkish
History First child of healthy, consanguineous Turkish parents. The boy was born at term after an uneventful pregnancy and delivery. After two years of normal development, the child presented with fever, lethargy and vomiting. Hospitalization because of severe seizures, coma and hyperreflexia. Initiation of intensive care treatment after development of a cerebral edema. Increased levels of orotic acid in urine and increased levels of ammonia led to the diagnosis of ornithine transcarbamylase deficiency. The diagnosis was confirmed by decreased activity of ornithine transcarbamylase (OTC) in liver. A few days after hospitalization, the boy suddenly died.
Author Willy Lehnert
Hospital University Childrens Hospital Freiburg
Date of entry 2002-07-28 21:44:58
(c) 2000-2024 RAMEDIS
General: Disclaimer | Webmaster: webmaster@ramedis.de | go top