About The Medical Condition Nonketotic Hyperglycinemia, Type II
Find the definition of the medical term Nonketotic Hyperglycinemia, Type II. Nonketotic Hyperglycinemia, Type II defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Nonketotic Hyperglycinemia, Type II
| Nonketotic Hyperglycinemia, Type II Medical Condition |
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What's The Definition Of The Medical Condition Nonketotic Hyperglycinemia, Type II?
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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