Genetic Disorders Genetic Disorders
Therapies For Inborn Errors Of Metabolism

Many inborn errors of metabolism often require diet changes with the type and extent of the changes dependant on the specific metabolic disorder. The particular enzyme absence or inactivity for each inborn error of metabolism dictates which components are restricted and which are supplemented. Registered dieticians and physicians can help an individual assess the diet changes needed for each disease. The goals of nutrition therapy are to correct the metabolic imbalance and promote growth and development by providing adequate nutrition, while also restricting (or supplementing) one or more nutrients or dietary components. Additional goals in some disorders include reducing the risk of brain damage, other organ damage, episodes of metabolic crisis and coma and even death. These restrictions and supplementations are specific for each disorder and they may include the restriction of total fats, simple sugars or total carbohydrates and proteins.

Over the last 50 years the study of genetic biochemical disorders has been a very fruitful area of scientific endeavor. It has been particularly gratifying that this research has enabled the elucidation of normal human biochemical processes. Making a biochemical diagnosis in the perinatal period may allow effective treatment regimens to be instituted and also clarifies the genetic risk for subsequent pregnancies with access to accurate prenatal diagnosis.

A detailed discussion of therapeutic approaches in IEM cannot be given here. Metabolic diseases specialist should be involved as early as possible in these cases. However the general principles of emergency therapy may help in

• Correct acid–base balance.
• Remove/reduce sources of intoxicating compound if it has been identified.
• Supplement deficient products. - Remove toxic intermediary compound (e g. haemodialysis  or exchange transfusion).
•Provide co-factors for deficient enzyme.
•Provide enzyme replacement (e.g. Liver / Bone marrow transplantation or infusion of recombinant enzyme).

At present for most IEMs, prognosis for survival or normal neurological outcome is limited, despite appropriate and aggressive therapy. It is likely that the outcomes will improve with
(a) Presymptomatic diagnosis (i.e., by prenatal detection or expanded neonatal screening),
(b) Identification of genes and other factors which impact on phenotype, response to treatment, and outcome and
(c)  Alternative novel approaches to therapy - pharmacologic therapy to increase activity of abnormal cofactor-dependent enzymes. Vitamins may be given empirically.

  • Transplantation (organ or bone marrow), Liver transplantation can be made. Eg. MSUD
  • Enzyme replacement therapy the deficient enzymes can be given to the patient. Eg. Pompe disease

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