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HOMOCYSTINURIA: A REPORT OF TWO AUSTRALIAN FAMILIES *
Author(s) -
TURNER GILLIAN,
DEY JUDITH,
TURNER B.
Publication year - 1967
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1111/j.1440-1754.1967.tb01682.x
Subject(s) - homocystinuria , medicine , ectopia lentis , methionine , omim : online mendelian inheritance in man , urine , disease , inborn error of metabolism , amino acid , pediatrics , genetics , gene , biology , phenotype , marfan syndrome
SYNOPSIS Homocystinuria, an inborn error in the metabolism of the sulphur containing amino‐acids, is characterized by the presence of the amino‐acid homocystine in the urine. The clinical features of the disease are mild in infancy but become progressively more severe in childhood. Ectopia lentis, mental retardation, skeletal deformity and a tendency to intra‐vascular thrombosis are features of the established disease. Two Australian families with 5 living affected members, illustrating the evolution of the disease are described. The condition follows a Mendelian recessive mode of inheritance. The diagnosis can be suspected by simple biochemical screening tests applied to the urine. Treatment by restriction of dietary methionine is under trial.