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Journal of Inherited Metabolic Disease

, Volume 6, Issue 4, pp 183–189 | Cite as

Organic acids and branched-chain amino acids in body fluids before and after multiple exchange transfusions in maple syrup urine disease

  • Y. Shigematsu
  • K. Kikuchi
  • T. Momoi
  • M. Sudo
  • Y. Kikawa
  • K. Nosaka
  • M. Kuriyama
  • S. Haruki
  • K. Sanada
  • N. Hamano
  • Y. Suzuki
Article

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.

Keywords

Succinic Acid Citric Acid Cycle Maple Syrup Urine Disease Urinary Organic Acid Cerebrospinal Fluid Level 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Abbreviations

MSUD

maple syrup urine disease

BCAA

branched-chain amino acid

BCKA

branched-chain α-keto acid

BCHA

branched-chain α-hydroxy acid

KICA

α-ketoisocaproic acid

KMVA

α-keto-β-methylvaleric acid

KIVA

α-ketoisovaleric acid

HICA

α-hydroxyisocaproic acid

HMVA

α-hydroxy-β-methylvaleric acid

HIVA

α-hydroxyisovaleric acid

CSF

cerebrospinal fluid

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Copyright information

© SSIEM and MTP Press Limited 1983

Authors and Affiliations

  • Y. Shigematsu
    • 1
  • K. Kikuchi
    • 1
  • T. Momoi
    • 1
  • M. Sudo
    • 2
  • Y. Kikawa
    • 2
  • K. Nosaka
    • 3
  • M. Kuriyama
    • 3
  • S. Haruki
    • 3
  • K. Sanada
    • 4
  • N. Hamano
    • 4
  • Y. Suzuki
    • 5
  1. 1.Department of Pediatrics, Faculty of MedicineKyoto UniversityKyotoJapan
  2. 2.Department of PediatricsFukui Medical SchoolFukuiJapan
  3. 3.Department of PediatricsFukui Prefectural HospitalFukuiJapan
  4. 4.Division of Clinical NutritionKyoto University HospitalKyotoJapan
  5. 5.Chest Disease Research InstituteKyoto UniversityKyotoJapan

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