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 1098
Diagnosis PHENYLKETONURIA (MIM 261600)
Gender m
Age of symptoms onset
Age of diagnosis 6.00 Day(s)
Found in newborn screening y
Diagnosis confirmed y
Country Germany
Ethnic origin Mother: Yugoslav, Father: Yugoslav
History The patient was found in the newborn screening program with mildly elevated levels of phenylalanine. BH4-loading test showed significant decrease of phe levels. During the first 4 months, normal nutrition and normal development. From the 5th month, phe levels rose above 400 ┬┐mol/l. Start of phe-restricted diet in the 6th month of life.
Author Friedrich Trefz
Hospital Childrens Hospital Reutlingen
Date of entry 2012-05-30 14:53:46
(c) 2000-2024 RAMEDIS
General: Disclaimer | Webmaster: webmaster@ramedis.de | go top