Abstract | BACKGROUND:
Beta-ketothiolase deficiency is a rare inborn errors of metabolism (IEM) affecting the catabolism of isoleucine, characterized by severe ketoacidosis in children of 6 to 24months old. A prompt diagnosis is of paramount importance as the metabolic decompensation can be effectively reverted by glucose infusion and health outcomes are improved on a protein-restricted diet. Currently, majority of the laboratory diagnosis were made based on mass-spectrometry and molecular genetics while little is mentioned on the advancement of nuclear magnetic resonance (NMR) spectroscopy for the diagnosis of this condition. CASE: CONCLUSIONS: This case illustrated that NMR-based urinalysis is complementary to organic acid analysis for diagnosis of beta-ketothiolase deficiency. The operation of NMR is simple and fast; sample preparation is a two-step procedure while the NMR acquisition is automatic and usually takes <15min. We envisage that NMR analysis will become more available in clinical laboratories and will play an important role in acute pediatric care.
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Authors | Chun-Yiu Law, Ching-Wan Lam, Chor-kwan Ching, Kin-Cheong Eric Yau, Tsz-wai Ho, Chi-kong Lai, Chloe Miu Mak |
Journal | Clinica chimica acta; international journal of clinical chemistry
(Clin Chim Acta)
Vol. 438
Pg. 222-5
(Jan 01 2015)
ISSN: 1873-3492 [Electronic] Netherlands |
PMID | 25195009
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | Copyright © 2014 Elsevier B.V. All rights reserved. |
Chemical References |
- Biomarkers
- Butanones
- Ketones
- tiglylglycine
- Acetyl-CoA C-Acyltransferase
- Glycine
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Topics |
- Acetyl-CoA C-Acyltransferase
(deficiency, urine)
- Amino Acid Metabolism, Inborn Errors
(diagnosis, urine)
- Biomarkers
(urine)
- Butanones
(urine)
- Gas Chromatography-Mass Spectrometry
- Glycine
(analogs & derivatives, urine)
- Humans
- Infant
- Ketones
(urine)
- Magnetic Resonance Imaging
(methods)
- Male
- Urinalysis
(methods)
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