NMR-based urinalysis for beta-ketothiolase deficiency.
Clin Chim Acta
; 438: 222-5, 2015 Jan 01.
Article
in En
| MEDLINE
| ID: mdl-25195009
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 We report a case of beta-ketothiolase deficiency in a 1-y-old Chinese boy who presented with repeated vomiting, impaired consciousness and severe ketoacidosis. NMR urinalysis detected excessive amount of butanone (a disease specific marker of beta-ketothiolase deficiency), tiglylglycine, (intermediate of isoleucine catabolism) and ketones. Diagnosis of beta-ketothiolase deficiency was further established by molecular genetic studies of ACAT1 gene of the proband.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.Key words
Full text:
1
Database:
MEDLINE
Main subject:
Acetyl-CoA C-Acyltransferase
/
Magnetic Resonance Imaging
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Biomarkers
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Urinalysis
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Amino Acid Metabolism, Inborn Errors
Language:
En
Journal:
Clin Chim Acta
Year:
2015
Type:
Article
Affiliation country:
China