title: Methylmalonic Acidemia.
abstract: Methylmalonic Acidemia (MMA) is an inborn error of metabolism that results in accumulation of methylmalonic acid in blood and increased excretion in urine. The effects of MMA vary from mild to life threatening and it usually presents in early infancy. Affected infants can have vomiting, dehydration, hypotonia, developmental delay and failure to thrive. The emergency treatment of the newborn with MMA mainly comprises rehydration and promotion of anabolism, followed by long-term dietary management by both the restriction of precursor amino acids using a low protein diet and avoidance of prolonged fasting. Prognosis depends on the type of MMA and whether the condition is well controlled in general and during episodes of metabolic decompensation. We report here the presentation and management of a 2-year boy with MMA who failed to achieve expected milestones for age. To the best of our knowledge, only one case of MMA has been reported from Pakistan.
authors.affiliation: Department of Paediatrics, Military Hospital, Rawalpindi.
authors.forename: Shahid
authors.initials: S
authors.lastname: Mahmud
authors.affiliation: Department of Paediatrics, Military Hospital, Rawalpindi.
authors.forename: Syed
authors.initials: S
authors.lastname: Awais Ul Hassan Shah
authors.affiliation: Department of Paediatrics, Military Hospital, Rawalpindi.
authors.forename: Salman
authors.initials: S
authors.lastname: Ali
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000178:diet therapy / Q000235:genetics / Q000628:therapy; D001921:Brain / Q000000981:diagnostic imaging*; D002675:Child, Preschool; D018753:Diet, Protein-Restricted; D006801:Humans; D008297:Male; D008764:Methylmalonic Acid / Q000097:blood / Q000378:metabolism*; D033681:Mitochondrial Membrane Transport Proteins / Q000235:genetics; D010154:Pakistan; D011379:Prognosis; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome
chemical_list: C497512:MMAA protein, human; D033681:Mitochondrial Membrane Transport Proteins; D008764:Methylmalonic Acid