Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 1994;17(2):230-3.
doi: 10.1007/BF00711623.

Inborn errors of amino acid metabolism in north India

M Kaur  1 , G P Das, I C Verma
Affiliations

Inborn errors of amino acid metabolism in north India

M Kaur et al. J Inherit Metab Dis. 1994.

Abstract

We screened 2560 referred cases for inborn errors of amino acid metabolism by chemical tests and thin-layer chromatography of urine/plasma. In 62(2.4%) cases, eleven inherited Mendelian disorders of amino acids were identified. The four commonest disorders were homocystinuria, alcaptonuria, maple syrup urine disease and nonketotic hyperglycinaemia. Ornithinaemia was detected in two cases (0.08%), and phenylketonuria and cystinuria in two cases each (0.08%). Generalized hyperaminoacidurias were found in 90 (3.52%) subjects. The frequency pattern of the various amino acid disorders in North India was found to be remarkably different from that observed in the West.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Indian J Med Res. 1977 Feb;65(2):241-7 - PubMed
    1. Indian J Med Res. 1984 Mar;79:384-91 - PubMed
    1. Indian J Med Res. 1991 Apr;94:161-9 - PubMed
    1. Acta Paediatr Scand. 1973 Jul;62(4):413-6 - PubMed
    1. J Med Genet. 1987 Jun;24(6):362-5 - PubMed

LinkOut - more resources