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Comparative Study
. 2004 Apr;42(3-4):85-98.
doi: 10.1023/b:bigi.0000020464.05335.79.

Amino acid disorders in mental retardation: a two-decade study from Andhra Pradesh

M Swarna  1 , A Jyothy, P Usha Rani, P P Reddy
Affiliations
Comparative Study

Amino acid disorders in mental retardation: a two-decade study from Andhra Pradesh

M Swarna et al. Biochem Genet. 2004 Apr.

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.

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