ORGANIC-ACIDURIA, DECREASED RENAL AMMONIA PRODUCTION, HYDROPHTHALMOS, AND MENTAL RETARDATIONA Clinical Entity

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