Neonatal nonketotic hyperglycinemia.
Nonketotic hyperglycinemia has variable phenotypic expressions and a poor prognosis. We report a case of severe neonatal nonketotic hyperglycinemia, who started convulsing immediately after birth. His glycine index was 0.38 and he did not respond to treatment with sodium benzoate and dextromethorphan. Hypotonia, transient hyperammonemia and metabolic acidosis were associated findings.
Bhamkar
Rahul P
RP
Department of Pediatrics, MGM Medical College and Hospital, Navi, Mumbai, India.
Colaco
Prisca
P
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis / Q000628:therapy; D018450:Disease Progression; D017809:Fatal Outcome; D005998:Glycine / Q000378:metabolism*; D006801:Humans; D020158:Hyperglycinemia, Nonketotic / Q000175:diagnosis* / Q000628:therapy; D007231:Infant, Newborn; D008297:Male; D035583:Rare Diseases; D018570:Risk Assessment; D012640:Seizures / Q000175:diagnosis / Q000628:therapy
D005998:Glycine