title: Amino acid disorders in mental retardation: a two-decade study from Andhra Pradesh.
abstract: A screening program was carried out for amino acid disorders in children with mental handicaps from the state of Andhra Pradesh (India) during the last two decades. Forty-one (0.9%) cases were detected with amino acid disorders among 4500 children surveyed. We reported amino acid disorders of rare occurrence such as dicarboxylic aminoaciduria, hydroxykynureninuria, persistent hypertyrosinemia, hydroxyprolinemia, hypervalinemia, etc. A new metabolic defect threoninemia was also detected. We have observed a preponderance of males with amino acid disorders. Parental consanguinity was present in 54% of cases with amino acid disorders.
authors.affiliation: Institute of Genetics, Hospital for Genetic Diseases, Begumpet, Hyderabad 500 016, A.P., India.
authors.forename: M
authors.initials: M
authors.lastname: Swarna
authors.forename: A
authors.initials: A
authors.lastname: Jyothy
authors.forename: P
authors.initials: P
authors.lastname: Usha Rani
authors.forename: P P
authors.initials: PP
authors.lastname: Reddy
mesh_terms: D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000453:epidemiology* / Q000235:genetics*; D002648:Child; D003241:Consanguinity; D005260:Female; D005787:Gene Frequency; D006801:Humans; D007194:India / Q000453:epidemiology; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D008403:Mass Screening; D010375:Pedigree; D012737:Sex Factors