z-logo
Premium
Aminoacidopathies: A review of 3 years experience of investigations in a Kuwait hospital
Author(s) -
Yadav G. C.,
Reavey P. C.
Publication year - 1988
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01800370
Subject(s) - human genetics , medicine , pediatrics , genetics , biology , gene
Summary We present a summary of the results of quantitative amino acid analysis in 800 subjects over a three‐year period in Al‐Sabah Hospital, Kuwait. Thirty‐five patients with aminoacidopathy were identified, all but two of whom were the offspring of first‐degree consanguineous marriages: nine cases of phenylketonuria, one benign hyperphenylalaninaemia, seven non‐ketotic hyperglycinaemia, five tyrosinaemia, five homocystinuria, four citrullinaemia, two cystinuria, one hyperprolinaemia, and one maple syrup urine disease. The clinical and biochemical findings in these cases are described.

This content is not available in your region!

Continue researching here.

Having issues? You can contact us here