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Patient case report | Main data
Patient ID 163
Gender m
Age of symptoms onset 7 Day(s)
Age of diagnosis 9.00 Day(s)
Found in newborn screening n
Diagnosis confirmed y
Country Germany
Ethnic origin Mother: German, Father: German
History After normal pregnancy, birth and first days of life without any problems, the infant became lethargic at the fifth day. At the age of seven days, the boy was hospitalized because of weight loss of 600g , increasing apathy and tachydyspnea. Hyperammonemia of 450 5mol/l, highly increased glutamine and alanine, decreased citrulline in serum, and increased excretion of glutamine, alanine, uracil and orotic acid in urine led to the diagnosis of an OTC-deficiency. Mutational analysis confirmed the diagnosis. Unfortunately, the mother was found to be a carrier. IQ of 100 (01/ 2003)
Author Friedrich Trefz
Hospital Childrens Hospital Reutlingen
Date of entry 2001-03-31 00:00:00
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