Methylmalonic Semialdehyde Dehydrogenase Deficiency: Psychomotor Delay and Methylmalonic Aciduria without Metabolic Decompensation

This publication has 11 references indexed in Scilit:

• Combined malonic, methylmalonic and ethylmalonic acid semialdehyde dehydrogenase deficiencies: An inborn error of β‐alanine,l‐valine andl‐alloisoleucine metabolism?
  Journal of Inherited Metabolic Disease, 1993
• Purification and Characterization of Methylmalonate-semialdehyde Dehydrogenase from Rat Liver
  Published by Elsevier ,1989
• Methylmalonic semialdehyde dehydrogenase deficiency: Demonstration of defective valine and β-alanine metabolism and reduced malonic semialdehyde dehydrogenase activity in cultured fibroblasts
  Biochemical Medicine and Metabolic Biology, 1987
• Tracer studies of the interconversion of R- and S-methylmalonic semialdehydes in man
  Biochemical Journal, 1985
• L-carnitine enhances excretion of propionyl coenzyme A as propionylcarnitine in propionic acidemia.
  Journal of Clinical Investigation, 1984
• Excessive excretion of β‐alanine and of 3‐hydroxypropionic,R‐ andS‐3‐aminoisobutyric,R‐ andS‐3‐hydroxyisobutyric andS‐2‐(hydroxymethyl)butyric acids probably due to a defect in the metabolism of the corresponding malonic semialdehydes
  Journal of Inherited Metabolic Disease, 1984
• Metabolic response to carnitine in methylmalonic aciduria. An effective strategy for elimination of propionyl groups.
  Archives of Disease in Childhood, 1983
• Linear relationship between the R- and S-enantiomers of β-aminoisobutyric acid in human urine
  Clinica Chimica Acta; International Journal of Clinical Chemistry, 1981
• Metabolism in rats in vivo of isobutyrates labeled with stable isotopes at various positions. Identification of propionate as an obligate intermediate.
  Journal of Biological Chemistry, 1978
• The absolute configuration of β-aminoisobutyric acid in human serum and urine
  Clinica Chimica Acta; International Journal of Clinical Chemistry, 1974