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Biology Articles » Biochemistry » An insight into the biochemistry of inborn errors of metabolism for a clinical neurologist » Treatment of inherited neurometabolic disorders

Treatment of inherited neurometabolic disorders
- An insight into the biochemistry of inborn errors of metabolism for a clinical neurologist

Specific and effective treatment is possible for many inborn errors due to advances in the understanding of their biochemical basis. Early clinical diagnosis is essential in ensuring that the affected infants will be benefited by these advances. Some of the modalities of treatment include regulation of substrate accumulation by restricted dietary intake (phenylalanine in phenylketonuria), regulation of endogenous production of substrate (NTBC treatment of hepatorenal tyrosinemia), acceleration of removal of substrate (dialysis or sodium benzoate in urea cycle disorders), replacement of products (thyroxine in inborn errors of thyroid hormone biosynthesis), enzyme replacement and gene transfer therapy.[47] Treatment of diseases that occur due to mutation in the protein affecting the utilization or binding of a vitamin cofactor, with pharmacological doses of the vitamin, often results in correction of the metabolic defect and reversal of the signs of the disease.

Even when treatment options are limited, there are benefits that follow an early diagnosis. A definitive diagnosis in a sick child avoids further unnecessary investigations, permits an accurate assessment of prognosis, and prevents the loss of an opportunity to make the diagnosis in the case of the death of the child. Furthermore, genetic advice can be offered to families with the prospect of prenatal diagnosis for future pregnancies, identification of other affected family members and carrier detection.

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