| phenylpyruvate oligophrenia | <disease> Congenital absence of phenylalanine hydroxylase (an enzyme that converts phenylalanine into tyrosine). Phenylalanine accumulates in blood and seriously impairs early neuronal development. The defect can be controlled by diet and is not serious if treated in this way. Incidence: highest in Caucasians. Acronym: PKU Origin: Gr. Ouron = urine (15 Oct 1997) |
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| cataract-oligophrenia syndrome | <syndrome> A rare neurologic disorder characterised by cerebellolental degeneration with mental retardation; autosomal recessive inheritance. Synonym: cataract-oligophrenia syndrome, Marinesco-Sjogren syndrome, Torsten Sjogren's syndrome. (05 Mar 2000) |
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| oligophrenia | Synonym: mental retardation. (05 Mar 2000) |
| glutamine - phenylpyruvate transaminase | <enzyme> A cysteine conjugate beta-lyase which also carries out transamination of glutamine; without beta-lyase activity use glutamine-pyruvate aminotransferase (EC 2.6.1.15) Registry number: EC 2.6.1.64 Synonym: dichlorovinylcysteine beta-lyase, glutamine transaminase k (26 Jun 1999) |
| phenylpyruvate oxidase | <enzyme> Phenylpyruvate is converted to o-hydroxyphenyl-acetic acid Registry number: EC 1.- (26 Jun 1999) |
| 3-phenylpyruvate aminotransferase | <enzyme> L-glutamate is amino-donor; forms phenylalanine Registry number: EC 2.6.1.- (26 Jun 1999) |