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Patient case report | Main data
Patient ID 307
Diagnosis ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450)
Gender m
Age of symptoms onset 0 Day(s)
Age of diagnosis 5.00 Day(s)
Found in newborn screening y
Diagnosis confirmed y
Country Germany
Ethnic origin Mother: German, Father: German
History The first child of healthy parents was found in the newborn screening program (Prof.Sander,Hannover,Germany) with elevated concentration of octanoylcarnitine in dried blood spot and increased ratio of C8/ C10. After diagnosis of MCAD-defiency was made, carnitine supplementation was initiated. Meanwhile diagnosis was confirmed by molecular genetic analysis.
Author Friedrich Trefz
Hospital Childrens Hospital Reutlingen
Coauthor(s)
Date of entry 2001-08-07 16:36:13
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