A peculiar type of familial mental deficiency, probably due to metabolic disturbance

ABSTRACT

A Filipino family with seven children - five mentally retarded with two dead and three alive - is presented. The mental deficiency is accompanied by dwarfism, muscular dystrophy, osteoporosis, acidosis and aminoaciduria. The marked excretion of amino acid in the mentally retarded children is obvious. However, even in the mother and two other children who looked mentally normal, there is likewise a slight aminoaciduria. We are aware that due to lack of facilities, we could not do all the necessary examinations. We believe, however, that the examinations done so far are sufficient to furnish the evidence of a syndrome characterized by aminoaciduria, acidosis, dwarfism, mental deficiency and severe muscular dystrophy. Chromosome studies ought to be done as we are dealing with a familial disease, but so far we do not have the necessary material. (Summary and Conclusions)