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 oligosaccharides in urine are produced by the incomplete breakdown of the carbohydrate side chains of complex glycoproteins. Analysis of urine oligosaccharides is an inexpensive, although not very specific, screening test for glycoproteinoses. The most widely used method is thin layer chromatography of diluted urine. Increased amounts of free sialic acid are excreted in the case of sialic acid storage disorders and can be determined in urine by spectrophotometry.