Benign methylmalonic acidemia in a sibship with distal renal tubular acidosis.
Two male infants born to consanguineous parents were investigated for feeding difficulties in the 1st month of life. Both were found to have distal renal tubular acidosis (dRTA) with hypercalciuria. Nephrocalcinosis was present in the first child but not in the second. Urinary organic acid profile demonstrated an excess of methylmalonic acid (MMA) in both children in the absence of any other organic acid. MMA mutase activity and propionate incorporation were normal. There have been no neurological symptoms in either child. The first child has normal growth and psychomotor development at 4 years. His brother, who also has significant gastrooesophageal reflux, has failed to thrive and currently requires nasogastric feeding and caloric supplements to maintain weight along the 3rd percentile. Urinary and plasma MMA continue to be raised in both cases. The association of increased urinary and plasma MMA and dRTA presenting in the 1st month of life has not previously been reported and may represent a new syndrome of autosomal recessive inheritance.
Department of Paediatric Nephrology, Southmead Hospital, Bristol, UK.
J
J
Dudley
J
J
Allen
J
J
Tizard
M
M
McGraw
D000141:Acidosis, Renal Tubular / Q000097:blood* / Q000150:complications / Q000000981:diagnostic imaging; D002118:Calcium / Q000652:urine; D005183:Failure to Thrive / Q000209:etiology; D006801:Humans; D007231:Infant, Newborn; D007532:Isoleucine / Q000494:pharmacology; D007677:Kidney Function Tests; D008297:Male; D008661:Metabolism, Inborn Errors / Q000097:blood* / Q000150:complications / Q000000981:diagnostic imaging; D008764:Methylmalonic Acid / Q000097:blood* / Q000652:urine; D008765:Methylmalonyl-CoA Mutase / Q000378:metabolism; D011422:Propionates / Q000378:metabolism*; D014463:Ultrasonography
D011422:Propionates; D007532:Isoleucine; D008764:Methylmalonic Acid; D008765:Methylmalonyl-CoA Mutase; D002118:Calcium