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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two cases of tyrosinaemia with eye and skin lesions typical of the Richner-Hanhart syndrome are described. The patients are a 29- and 26-year-old brother and sister. They do not show neurological abnormalities or mental retardation. Parents are not consanguineous and family history is negative for similar conditions. The diagnosis of type II tyrosinaemia was based upon an increase of blood tyrosine (14-16mg/100 ml), tyrosinuria and absence of liver and kidney abnormalities. The treatment with a low tyrosine phenylalanine diet has resulted in a disappearence of the ocular manifestations while the cutaneous lesions are much improved.
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PMID:Familial tyrosinaemia with eye and skin lesions. Presentation of two cases. 2 May 95

Tyrosine-induced eye and skin lesions in man are an autosomal, recessive, inherited syndrome associated with tyrosinemia, tyrosinuria, and increased urinary excretion of tyrosine metabolites. Patients have mild to severe keratitis and erosive and hyperkeratotic lesions on the palms and soles. The degree of involvement was variable in the small number of patients studied. Mental retardation is frequently a part of the syndrome. A low-tyrosine low-phenylalanine diet lowers blood tyrosine level and leads to healing of the skin and eye lesions. Early dietary treatment may prevent mental retardation.
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PMID:Tyrosine-induced eye and skin lesions. A treatable genetic disease. 13 41

Mental Retardation is a condition where complex interactions of intrinsic and extrinsic factors hamper mental and sometimes physical growth of the child during developmental period. This study was carried out to detect cause of Mental Retardation in 2000 cases of developmental delay by a multidisciplinary team comprising of a Pediatrician, Cytogeneticist, Biochemist, Psychologist and Speech and Occupational therapists. The causes for developmental delay are broadly divided into Genetic, Environmental and Idiopathic (no specific cause found) factors. The complete diagnosis was possible in 1192(60%) cases. Genetic factors were found in 477(23.8%) cases and environmental factors covered 692(34.6%) cases as a cause of retardation. The most common genetic cause is chromosomal abnormalities which were found in 355 (17.75%) cases. Another major group comprising of 122 (6.1%) cases was that of the disorders which follow Mendelian inheritance. Autosomal recessive conditions, which covers majority of metabolic disorders, are detected in 48(2.4%) cases. During this screening the most common inherited metabolic condition detected is Mucopolysaccharidosis, a Lysosomal Storage Disorder followed by Amino acid abnormalities like Phenylketonuria, Alkaptonuria and Tyrosinuria.
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PMID:Detection of inherited metabolic diseases in children with mental handicap. 2310 12