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Case report
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Molecular genetics  Molecular genetics
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Patient case report | Main data
Patient ID 305
Gender f
Age of symptoms onset 5 Year(s)
Age of diagnosis 11.00 Year(s)
Found in newborn screening n
Diagnosis confirmed y
Country Germany
Ethnic origin Mother: German, Father: German
History The 11 years old girl went into hyperammonemic coma after drinking a special "body building" protein-rich diet. This led to the diagnosis of a heterozygot OTC deficiency. The neurologic outcome was poor despite therapy including hemodialysis. Monatsschr Kinderheilk 2000; 148:997-1000
Author Published Cases
Hospital Published Case
Coauthor(s) v. Buch C, Hoppe B, Luechtrath M, Wendel U, Keuth B, Vierzig A, Roth B
Date of entry 2001-08-07 08:26:58
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