ASPARTYLGLUCOSAMINURIA IN A TUNISIAN FAMILY

We report on the first 4 cases of aspartylglucosaminuria (AGU) diagnos ed in Tunisia. Four siblings with the clinical and laboratory findings of AGU were the products of a first cousins' mating. The index case w as a 20 month old male who presented with heart failure and coarse fea tures. He had a slow psychomotor development and skeletal changes cons istent with numerous changes in small bones. Enzymatic essays in cultu red skin fibroblasts showed aspartylglucosaminidase deficiency. His 2 sisters and his brother were 11, 3 and 8 1/2 years of age, respectivel y and also presented a slow psychomotor development and dysmorphia.