Hyperglycinemia,Nonketotic

《英文msh詞典》Hyperglycinemia,Nonketotic
[主題詞] Hyperglycinemia,Nonketotic
[同義詞] Nonketotic Hyperglycinemia
[入口詞] Hyperglycinemia,Nonketotic,Type I
[入口詞] Hyperglycinemia,Nonketotic,Type II
[入口詞] Hyperglycinemia,Nonketotic,Type III
[入口詞] Nonketotic Hyperglycinemia,Type I
[入口詞] Nonketotic Hyperglycinemia,Type II
[入口詞] Nonketotic Hyperglycinemia,Type III
[入口詞] Type I Nonketotic Hyperglycinemia
[入口詞] Type II Nonketotic Hyperglycinemia
[入口詞] Type III Nonketotic Hyperglycinemia
[入口詞] Hyperglycinemias,Nonketotic
[入口詞] Nonketotic Hyperglycinemias
[中文釋義] 高甘氨酸血癥,非酮性
[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)