Hyperglycinemia, Nonketotic : KMLE 의학 검색 엔진 - 의학사전, 의학용어, 의학약어, 의학논문, 약품/의약품 검색

MeSH(Medical Subject Headings) 맞춤 검색 (http://www.nlm.nih.gov) 결과 : 1 페이지: 1

Hyperglycinemia, Nonketotic - 새창 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)
Synonyms : Hyperglycinemia, Nonketotic, Type I, Hyperglycinemia, Nonketotic, Type II, Hyperglycinemia, Nonketotic, Type III, Nonketotic Hyperglycinemia, Type I, Nonketotic Hyperglycinemia, Type II, Nonketotic Hyperglycinemia, Type III, Type I Nonketotic Hyperglycinemia