title: Intact recovery from early 'acquired methylmalonic aciduria' secondary to maternal atrophic gastritis.
abstract: OBJECTIVE
  A 6-month-old infant with severe hyporegenerative anaemia, muscular hypotonia and developmental delay is reported, and the metabolic, diagnostic and therapeutic implications of this case are discussed.
  
  
  RESULTS
  Diagnostic work-up disclosed vitamin B12 depletion with an elevated excretion of methylmalonic acid (MMA), but a normal plasma total homocysteine. MRI showed fronto-temporal atrophy and a delay in myelinization. The boy's disease was attributable to a maternal atrophic gastritis. After initiation of vitamin B12 supplementation, he quickly recovered regarding haematopoiesis and MMA excretion. His neurological development completely normalized during 18 months of follow-up including assessment by Bayley scores.
  
  
  CONCLUSIONS
  As the majority of reported patients with this acquired form of methylmalonic aciduria show a persistent neurological deficit, early diagnosis of this condition is mandatory and should include sensitive markers of vitamin B12 depletion, namely MMA formation and plasma homocysteine.
authors.affiliation: Department of Pediatrics, Klinikum Neukölln, Berlin, Germany.
authors.forename: Wencke
authors.initials: W
authors.lastname: Weber-Ferro
authors.forename: Christoph
authors.initials: C
authors.lastname: Hertzberg
authors.forename: Helmut
authors.initials: H
authors.lastname: Röder
authors.forename: Katharina
authors.initials: K
authors.lastname: Timme
authors.forename: Rainer
authors.initials: R
authors.lastname: Rossi
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000652:urine*; D019587:Dietary Supplements; D005260:Female; D005757:Gastritis, Atrophic / Q000150:complications* / Q000473:pathology; D006801:Humans; D007223:Infant; D008429:Maternal Welfare; D008764:Methylmalonic Acid / Q000378:metabolism*; D011247:Pregnancy; D014805:Vitamin B 12 / Q000627:therapeutic use*; D014806:Vitamin B 12 Deficiency / Q000150:complications* / Q000188:drug therapy; D014803:Vitamin B Complex / Q000627:therapeutic use*
chemical_list: D014803:Vitamin B Complex; D008764:Methylmalonic Acid; D014805:Vitamin B 12