| 单词 | Type II Nonketotic Hyperglycinemia |
| 释义 | Type II Nonketotic Hyperglycinemia《英文msh词典》Type II Nonketotic Hyperglycinemia [入口词] Type II Nonketotic Hyperglycinemia [主题词] Hyperglycinemia,Nonketotic [英文释义] 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) |
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