Treatment with L-carnitine greatly enhanced the formation and excretion of short-chain acylcarnitines in three patients with propionic acidemia and in three normal controls. The use of fast atom bombardment mass spectrometry and linked scanning at constant magnetic (B) to electric (E) field ratio identified the acylcarnitine as propionylcarnitine in patients with propionic acidemia. The normal ...

Derrick MacFabe’s hypothesis that propionic acid generated by gut bacteria induces autism [1], while compelling, leaves one question largely unanswered: Why do children with inborn propionic acidemia rarely show autistic behavior? Although exacerbations of Propionic Acidemia (PA) bear “some resemblance” to autism spectrum disorders (ASD), MacFabe noted, only one case of autism associated with P...

Background and objectiveMethylmalonic acidemia (MMA) propionic (PA) are inborn errors of metabolism. While survival MMA PA patients has improved in recent decades, long-term outcome is still unsatisfactory. A protein restricted diet the mainstay for treatment. Additional amino acid mixtures (AAM) can be prescribed if natural insufficient. It unknown dietary treatment have an impact on outcome.D...

OBJECTIVE To assess the long term outcome of patients with methylmalonic acidaemia in a cross sectional study. PATIENTS All 35 patients with methylmalonic acidaemia seen at Great Ormond Street Hospital for Children in London, UK between 1970 and 1996 were studied. They were divided into cobalamin responsive (n = 6) and non-responsive (n = 29), and early and late onset groups. RESULTS There ...

Patients with methylmalonic aciduria have an excessive intramitochondrial accumulation of acylcoenzyme A compounds that may reduce the availability of free coenzyme A (CoA) for normal metabolic requirements, producing profound metabolic disturbances. Giving carnitine to a patient with methylmalonic aciduria produced an increase in hippurate excretion (an index of intramitochondrial adenosine tr...

Methylmalonic aciduria (MMA) cblB type is caused by mutations in the MMAB gene. This encodes the enzyme ATP:cob(I)alamin adenosyltransferase (ATR), which converts reduced cob(I)alamin to an active adenosylcobalamin cofactor. We recently reported the presence of destabilizing pathogenic mutations that retain some residual ATR activity. The aim of the present study was to seek pharmacological cha...

BACKGROUND Succinate-CoA ligase deficiency is responsible for encephalomyopathy with mitochondrial DNA depletion and mild methylmalonic aciduria. Mutations in SUCLA2, the gene encoding a β subunit of succinate-CoA ligase, have been reported in 17 patients until now. Mutations in SUCLG1, encoding the α subunit of the enzyme, have been described in two pedigrees only. METHODS AND FINDINGS In th...