title: A case of vitamin B12--independent methylmalonic aciduria.
abstract: The reported case was a female infant aged 7 months with severe ketoacidosis associated with vomiting, dehydration and cardiorespiratory disturbances at the time of exacerbation of the disease. The analysis of urinary organic acids by the GC-MS method revealed methylmalonic aciduria. After placing the infant on a low-protein diet (1.5 g of protein per 1 kg of body weight) and initially vitamin B12 parenterally a striking clinical improvement with evident progress in psychomotor development of the child was achieved.
authors.affiliation: Department of Metabolic Diseases, Child Health Centre, Warszawa, Poland.
authors.forename: B
authors.initials: B
authors.lastname: Gruszczyńska
authors.forename: Z
authors.initials: Z
authors.lastname: Mielniczuk
authors.forename: B
authors.initials: B
authors.lastname: Katyńska
authors.forename: E
authors.initials: E
authors.lastname: Pronicka
mesh_terms: D000138:Acidosis / Q000178:diet therapy / Q000188:drug therapy* / Q000652:urine; D004044:Dietary Proteins / Q000008:administration & dosage; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D007223:Infant; D008764:Methylmalonic Acid / Q000652:urine*; D014805:Vitamin B 12 / Q000627:therapeutic use*
chemical_list: D004044:Dietary Proteins; D008764:Methylmalonic Acid; D014805:Vitamin B 12