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

Excess acidic mucopolysaccharides in urine can be detected and quantified by measuring the change in color of metachromatic dyes such as Alcian blue, dimethylmethylene blue or toluidine blue. Although qualitative spot tests, such as the Berry spot test, are rapid and inexpensive, they produce many false-positive and false-negative results. Uni- or bidirectional electrophoresis or thin layer chromatography of urinary mucopolysaccharides provides information that is important for the classification of the disorders by indicating the relative proportions of specific mucopolysaccharides.