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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Law, Chun-Yiu Lam, Ching-Wan Ching, Chor-kwan Yau, Kin-Cheong Eric Ho, Tsz-wai Lai, Chi-kong Mak, Chloe Miu |
| Description | Country affiliation: China Author Affiliation: Law CY ( Department of Pathology, Queen Mary Hospital, The University of Hong Kong, Hong Kong, China.); Lam CW ( Department of Pathology, Queen Mary Hospital, The University of Hong Kong, Hong Kong, China. Electronic address: ching-wanlam@pathology.hku.hk.); Ching CK ( Department of Pathology, Princess Margaret Hospital, Hong Kong, China.); Yau KC ( Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong, China.); Ho TW ( Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong, China.); Lai CK ( Department of Pathology, Princess Margaret Hospital, Hong Kong, China.); Mak CM ( Department of Pathology, Princess Margaret Hospital, Hong Kong, China.) |
| 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. |
| File Format | HTM / HTML |
| ISSN | 00098981 |
| Volume Number | 438 |
| e-ISSN | 18733492 |
| Journal | Clinica Chimica Acta |
| Language | English |
| Publisher | Elsevier |
| Publisher Date | 2015-01-01 |
| Publisher Place | Netherlands |
| Access Restriction | One Nation One Subscription (ONOS) |
| Subject Keyword | Discipline Clinical Chemistry Discipline Laboratory Medicine Acetyl-coa C-acyltransferase Deficiency Amino Acid Metabolism, Inborn Errors Diagnosis Urine Biological Markers Magnetic Resonance Imaging Methods Urinalysis Butanones Gas Chromatography-mass Spectrometry Glycine Analogs & Derivatives Humans Infant Ketones Male Case Reports Journal Article Research Support, Non-u.s. Gov't |
| Content Type | Text |
| Resource Type | Case study Article |
| Subject | Biochemistry (medical) Clinical Biochemistry Biochemistry |
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