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Benign methylmalonic acidemia in a sibship with distal renal tubular acidosis

J Dudley1, J Allen, J Tizard

  • 1Department of Paediatric Nephrology, Southmead Hospital, Bristol, UK.

Pediatric Nephrology (Berlin, Germany)
|October 7, 1998
PubMed

Insights

Two infants presented with feeding difficulties and distal renal tubular acidosis (dRTA) alongside elevated methylmalonic acid (MMA). This suggests a potential new syndrome of autosomal recessive inheritance.

Area of Science:

  • Pediatric Nephrology
  • Clinical Genetics
  • Metabolic Disorders

Background:

  • Investigated two male infants with feeding difficulties in early infancy.
  • Both infants were born to consanguineous parents, suggesting a possible genetic link.

Observation:

  • Both infants diagnosed with distal renal tubular acidosis (dRTA) and hypercalciuria.
  • Elevated urinary and plasma methylmalonic acid (MMA) detected in both infants, despite normal MMA mutase activity.
  • Nephrocalcinosis observed in one infant; the other experienced failure to thrive with gastroesophageal reflux.

Findings:

  • Identified a novel association between elevated MMA and dRTA presenting in the first month of life.
  • Absence of neurological symptoms and normal MMA mutase activity in affected infants.
  • Clinical presentation varied, with one child showing normal development and the other significant growth issues.

Implications:

  • This association may represent a previously unreported syndrome of autosomal recessive inheritance.
  • Highlights the importance of investigating metabolic derangements in infants with dRTA and feeding difficulties.
  • Further research is needed to elucidate the genetic basis and precise mechanisms of this potential new syndrome.

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