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 635
Gender f
Age of symptoms onset 12 Month(s)
Age of diagnosis 0.00 Day(s)
Found in newborn screening n
Diagnosis confirmed y
Country Germany
Ethnic origin Mother: German, Father: German
History Second child of healthy parents was born at term after an uneventful pregnancy and delivery. Weight at birth of 2520 g. After 12 months of normal development, the girl presented with recurrent vomiting and bleeding tendency. Decreased values for coagulation factors 2, 7, 9 and 10 were found. Highly elevated levels of ammonia in serum and increased excretion of orotic acid led to the diagnosis of ornithine transcarbamylase (OTC) deficiency.
Author Willy Lehnert
Hospital University Childrens Hospital Freiburg
Date of entry 2002-07-30 23:12:44
(c) 2000-2024 RAMEDIS
General: Disclaimer | Webmaster: webmaster@ramedis.de | go top