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Biology Articles » Biochemistry » An insight into the biochemistry of inborn errors of metabolism for a clinical neurologist » Biochemical investigations

Biochemical investigations
- An insight into the biochemistry of inborn errors of metabolism for a clinical neurologist

The initial biochemical investigation of a suspected inherited neurometabolic disease should include the following tests: blood glucose, liver function tests, blood gases and electrolytes, lactate, ammonium, creatine phosphokinase (CPK), lactate dehydrogenase (LDH), plasma and urine amino acid analysis (screening by thin-layer chromatography will fulfil most requirements, quantitative amino acid analysis if abnormalities are found), urine reducing compounds, ketones, mucopolysaccharides and oligosaccharide screening test. Further detailed investigations such as urinary organic acids, plasma carnitine and acyl carnitine profile, plasma very-long-chain fatty acids, red cell plasmalogens, plasma and urinary pipecolic acid, serum copper, ceruloplasmin, 24-h urinary copper, serum uric acid, urine uric acid/creatinine ratio, urine myoglobin, ischemic forearm exercise test, blood lipid profile and lipoprotein electrophoresis, cerebrospinal fluid (CSF) lactate and neurotransmitter studies, enzyme studies and molecular genetic studies could be carried out, if indicated, on the basis of the results of initial tests as well as the clinical findings.

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