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CYSTINURIA AND ITS RELATIONSHIP TO MENTAL RETARDATION
Author(s) -
SMITH ARABELLA,
PROCOPIS PETER G.
Publication year - 1975
Publication title -
medical journal of australia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 131
eISSN - 1326-5377
pISSN - 0025-729X
DOI - 10.5694/j.1326-5377.1975.tb106458.x
Subject(s) - cystinuria , mentally retarded , incidence (geometry) , heterozygote advantage , population , urine , medicine , pediatrics , psychology , cystine , genetics , biology , developmental psychology , cysteine , genotype , environmental health , biochemistry , mathematics , gene , enzyme , geometry
Urine specimens from 2,073 mentally retarded children have been analysed for their amino acid content, with the aim of determining the relationship of cystinnria and mental retardation. No children homozygous for cystinuria were identified, but 50 heterozygous children were found. This heterozygote incidence is 13 times that expected in our general population.