Homocystinuria: a family with peculiar genetic transmission.

ABSTRACT

Homocystinurias are a relatively rare group of seven distinct genetic disorders of amino acid metabolism characterised by increased concentration of sulphur containing amino acid homocysteine in the blood and urine. Its transmission is believed to be autosomal recessive. We reported a family with four females siblings spared and three male siblings affected. This case is reported because of its rarity and peculiar genetic transmission.