Neurological dysfunction is an important manifestation of inherited metabolic disorders.

• Abstract
• Introduction
• Chronic Encephalopathy
• Acute Encephalopathy
• Ataxia and Extrapyramidal Movement Disorders
• Myopathy
• Psychiatric problems
• Biochemical investigations
• Glucose
• Blood Gases and Acid-base Profile
• Lactate
• Ketones
• Ammonium
• Amino acids
• Organic acids
• Mucopolysaccharides
• Oligosaccharides
• Acylcarnitine and acylglycines
• Very-long-chain fatty acids (VLCFA)
• Red Cell Plasmalogens
• Pipecolic acid
• Enzyme studies
• Tandem mass spectrometry
• Molecular genetic studies
• Neuroimaging
• Treatment of inherited neurometabolic disorders
• Conclusion
• References
• Figures
• Tables

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.