Nonketotic Hyperglycinemias

《英文msh詞典》Nonketotic Hyperglycinemias
[入口詞] Nonketotic Hyperglycinemias
[主題詞] Hyperglycinemia,Nonketotic
[英文釋義] An autosomal recessive metabolic disorder caused by deficiencies in the mitochondrial GLYCINE cleavage system; an enzyme system with four components: P-,T-,H-,and L-proteins. Deficiency of the P-protein is the most prevalent form. Neonatal and juvenile presentations have been reported. Neonatal onset is more common and may be fatal. Clinical features include SEIZURES; hypotonia; APNEA; and COMA. When the illness presents in childhood there tends to be an associated progressive DEMENTIA accompanied by extrapyramidal signs. (Menkes,Textbook of Child Neurology,5th ed,p46; Jpn J Hum Genet 1997 Mar;42(1):13-22)