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 248
Diagnosis GLUTARIC ACIDEMIA I (MIM 231670)
Gender f
Age of symptoms onset 5 Year(s)
Age of diagnosis 5.33 Year(s)
Found in newborn screening n
Diagnosis confirmed y
Country Germany
Ethnic origin Mother: German, Father: German
History The child of non consanguinic parents developed normal until the age of 3 years. Then it presentated choreoathetosis. After a follow up of 2 months the child remained moderately handicapped. Pediatrics 1991;88:1194-1203 1956737
Author Published Cases
Hospital Published Case
Coauthor(s) Hoffmann GF, Trefz FK, Barth PG, Boehles HJ, Biggemann B, Bremer HJ et al
Date of entry 2001-07-15 20:01:24
(c) 2000-2024 RAMEDIS
General: Disclaimer | Webmaster: webmaster@ramedis.de | go top