Organic acids and branched‐chain amino acids in body fluids before and after multiple exchange transfusions in maple syrup urine disease
- 1 December 1983
- journal article
- research article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 6 (4), 183-189
- https://doi.org/10.1007/bf02310879
Abstract
We successfully treated a critically ill infant with the classical type of maple syrup urine disease by multiple exchange tranfusions via a peripheral artery and vein and with positive supplementation in the early stage of therapy. Clinical improvement was definite after the plasma leucine level fell below 1 mmol/l. There was a close linear correlation between plasma concentrations of branched-chain amino acids and their corresponding branched-chain α-keto acids and branched-chain α-hydroxy acids. α-Hydroxy acids were more easily excreted in the urine than α-keto acids and amino acids. Our studies on urinary organic acids supported the existence of minor metabolic pathways of branched-chain α-keto acids, although they were not though to be important in eliminating accumulated α-keto acids. Urinary excretion of succinic acid and α-ketoglutaric acid, which are components of the citric acid cycle, increased transiently during the patient's convalescence. The cerebrospinal fluid/plasma ratios for branched-chain amino acids, α-keto acids, and α-hydroxy acids were very high before the transfurions and decreased after improvement. The cerebrospinal fluid/plasma rations for 5-carvon acids, α-ketoisovaleric acid and α-hydroxyisiovaleric acid were much higher than for other branched-chain acids not only in the patients but also in normal controls. Cerebrospinal fluid levels of α-ketoisocaproic acid and α-hydroxyisovaleric acid were as high as 1 mmol/l in our patient.This publication has 25 references indexed in Scilit:
- Changing Plasma and Urinary Organic Acid Levels in a Patient with Isovaleric Acidemia during an AttackPediatric Research, 1982
- Subcellular distribution and partial characterization of an α-ketoisocaproate oxidase of rat liver: Formation of β-hydroxyisovaleric acidArchives of Biochemistry and Biophysics, 1981
- Exchange transfusion in ill newborn infants using peripheral arteries and veinsThe Journal of Pediatrics, 1979
- Correlations between branched-chain amino acids and branched-chain α-keto acids in blood in maple syrup urine diseaseClinica Chimica Acta; International Journal of Clinical Chemistry, 1978
- Investigation of the metabolic pattern in maple syrup urine disease by means of glass capillary gas chromatography and mass spectrometryJournal of Chromatography B: Biomedical Sciences and Applications, 1977
- Amino acid abnormalities in cerebrospinal fluid of patients with parkinsonism and extrapyramidal disordersNeurology, 1976
- 2-ethyl-3-deuterohydracrylic acid, the major urinary metabolite of 2-trideuteromethylbutyric acid by a new metabolic pathwayJournal of Mass Spectrometry, 1975
- Branched-chain alpha-keto acids isolated as oxime derivatives: Relationship to the corresponding hydroxy acids and amino acids in Maple Syrup Urine DiseaseMetabolism, 1974
- Enzyme activity in classical and variant forms of maple syrup urine diseaseThe Journal of Pediatrics, 1972
- Pathogenesis of maple-syrup-urine disease: observations during dietary management and treatment of coma by peritoneal dialysisBiochemical Medicine, 1969