ORGANIC-ACIDURIA, DECREASED RENAL AMMONIA PRODUCTION, HYDROPHTHALMOS, AND MENTAL RETARDATION<subtitle>A Clinical Entity</subtitle>

Abstract

THE OCCURRENCE of children with anomalous metabolic disturbances is distressing to parents and perplexing to physicians. However, such children frequently offer an opportunity for investigation that cannot be provided by animal experimentation. The following patients had abnormalities of renal function, bone disease, mental retardation, and congenital glaucoma. This combination appears to be unique, for we have been unable to find reports of similar children. Their cases are summarized briefly below and are presented in detail in an appendix. <h3>SUMMARY OF CASES</h3> Patient 1 (MGH 563342).—R. P., a 2-month-old infant, was examined because of bilateral congenital cataracts and was also found to have bilateral glaucoma, albuminuria, and minimal glycosuria. From 6 to 12 months of age he received calcium lactate and sodium lacate therapy. Intensively studied when one year old (Fig. 1), he was free of bone disease but had chronic serum acidosis, organic-aciduria, decreased ability to make urinary ammonia, mental