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

Chronic Encephalopathy
- An insight into the biochemistry of inborn errors of metabolism for a clinical neurologist

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].

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