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Organic acids and branched-chain amino acids in body fluids before and after multiple exchange transfusions in maple syrup urine disease.
J Inherit Metab Dis. 1983; 6(4):183-9.JI

Abstract

We successfully treated a critically ill infant with the classical type of maple syrup urine disease by multiple exchange transfusions via a peripheral artery and vein and with positive calorie 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 alpha-keto acids and branched-chain alpha-hydroxy acids. alpha-Hydroxy acids were more easily excreted in the urine than alpha-keto acids and amino acids. Our studies on urinary organic acids supported the existence of minor metabolic pathways of branched-chain alpha-keto acids, although they were not thought to be important in eliminating accumulated alpha-keto acids. Urinary excretion of succinic acid and alpha-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, alpha-keto acids, and alpha-hydroxy acids were very high before the transfusions and decreased after improvement. The cerebrospinal fluid/plasma ratios for 5-carbon acids, alpha-ketoisovaleric acid and alpha-hydroxyisovaleric acid were much higher than for other branched-chain acids not only in the patient but also in normal controls. Cerebrospinal fluid levels of alpha-ketoisocaproic acid and alpha-hydroxyisovaleric acid were as high as 1 mmol/l in our patient.

Authors

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Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

6422161

Citation

Shigematsu, Y, et al. "Organic Acids and Branched-chain Amino Acids in Body Fluids Before and After Multiple Exchange Transfusions in Maple Syrup Urine Disease." Journal of Inherited Metabolic Disease, vol. 6, no. 4, 1983, pp. 183-9.
Shigematsu Y, Kikuchi K, Momoi T, et al. Organic acids and branched-chain amino acids in body fluids before and after multiple exchange transfusions in maple syrup urine disease. J Inherit Metab Dis. 1983;6(4):183-9.
Shigematsu, Y., Kikuchi, K., Momoi, T., Sudo, M., Kikawa, Y., Nosaka, K., Kuriyama, M., Haruki, S., Sanada, K., & Hamano, N. (1983). Organic acids and branched-chain amino acids in body fluids before and after multiple exchange transfusions in maple syrup urine disease. Journal of Inherited Metabolic Disease, 6(4), 183-9.
Shigematsu Y, et al. Organic Acids and Branched-chain Amino Acids in Body Fluids Before and After Multiple Exchange Transfusions in Maple Syrup Urine Disease. J Inherit Metab Dis. 1983;6(4):183-9. PubMed PMID: 6422161.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Organic acids and branched-chain amino acids in body fluids before and after multiple exchange transfusions in maple syrup urine disease. A1 - Shigematsu,Y, AU - Kikuchi,K, AU - Momoi,T, AU - Sudo,M, AU - Kikawa,Y, AU - Nosaka,K, AU - Kuriyama,M, AU - Haruki,S, AU - Sanada,K, AU - Hamano,N, PY - 1983/1/1/pubmed PY - 1983/1/1/medline PY - 1983/1/1/entrez SP - 183 EP - 9 JF - Journal of inherited metabolic disease JO - J Inherit Metab Dis VL - 6 IS - 4 N2 - We successfully treated a critically ill infant with the classical type of maple syrup urine disease by multiple exchange transfusions via a peripheral artery and vein and with positive calorie 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 alpha-keto acids and branched-chain alpha-hydroxy acids. alpha-Hydroxy acids were more easily excreted in the urine than alpha-keto acids and amino acids. Our studies on urinary organic acids supported the existence of minor metabolic pathways of branched-chain alpha-keto acids, although they were not thought to be important in eliminating accumulated alpha-keto acids. Urinary excretion of succinic acid and alpha-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, alpha-keto acids, and alpha-hydroxy acids were very high before the transfusions and decreased after improvement. The cerebrospinal fluid/plasma ratios for 5-carbon acids, alpha-ketoisovaleric acid and alpha-hydroxyisovaleric acid were much higher than for other branched-chain acids not only in the patient but also in normal controls. Cerebrospinal fluid levels of alpha-ketoisocaproic acid and alpha-hydroxyisovaleric acid were as high as 1 mmol/l in our patient. SN - 0141-8955 UR - https://www.unboundmedicine.com/medline/citation/6422161/Organic_acids_and_branched_chain_amino_acids_in_body_fluids_before_and_after_multiple_exchange_transfusions_in_maple_syrup_urine_disease_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0141-8955&date=1983&volume=6&issue=4&spage=183 DB - PRIME DP - Unbound Medicine ER -