Hyperdibasicaminoaciduria: an inherited disorder of amino acid transport.

Extract: A dominantly inherited trait, expressed as ‘hyperdibasicaminoaciduria’, has been identified in 13 of 33 members in a French Canadian pedigree (fig. 1). The female proband was 18 months old when first identified. The medical problems which brought her to our attention were her small stature and symptoms compatible with a mild malabsorption syndrome. Neither the small stature nor the intestinal complaints could be linked confidently with the appearance of the inherited trait; it is more reasonable to assume that the incidental appearance of a medical problem in the proband brought the otherwise benign trait to attention.