Renal tubular acidosis associated with type III glycogenosis.
Two children who presented with severe failure to thrive were found to have Type III glycogen storage disease. They both also had defects of tubular acidification, an association not previously described. The nature of the tubular lesion is characterized and the explanation and therapeutic implications are discussed.
D000141:Acidosis, Renal Tubular / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D006008:Glycogen Storage Disease / Q000150:complications*; D006010:Glycogen Storage Disease Type III / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male