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

Of all neurological problems that occur in patients with inherited neurometabolic disorders, developmental delay or psychomotor retardation is the most common. The cognitive disabilities caused by these disorders tend to be at a global level, affecting all spheres of development to some extent. They are usually progressive and associated with other objective evidences of neurological dysfunction such as disorders of muscle tone, impairment of special senses, seizures, pyramidal tract signs, evidences of extrapyramidal deficits or cranial nerve deficits. Routine screening for inborn errors of metabolism in children with developmental delay has a diagnostic yield of approximately 1% that can increase to 5% in specific situations such as in the case of relatively homogenous and isolated populations or if there are clinical indicators.^[4] A general approach to the evaluation of neurometabolic causes of chronic encephalopathy^[3] is presented in [Figure 1].