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