How is inborn metabolism error treated?
The management of inborn errors of metabolism has traditionally consisted in diet therapy and supportive therapy, but recently other treatment options have become available, including enzyme and coenzyme replacement, removal of harmful substances, cell and organ transplantation, and gene therapy.
What are examples of inborn errors of metabolism?
Inborn error of metabolism: A heritable disorder of biochemistry. Examples of inborn errors of metabolism include albinism, cystinuria (a cause of kidney stones), phenylketonuria (PKU), and some forms of gout, sun sensitivity, and thyroid disease.
Which is the most common inborn errors of metabolism?
Examples of Itnborn Errors of Metabolism by Disorder
| Disorder | ∼Incidence | Metabolic error |
|---|---|---|
| Amino acid metabolism | ||
| Phenylketonuria | 1:15,000 | Phenylalanine hydroxylase (> 98 percent) |
| Biopterin metabolic defects (< 2 percent) | ||
| Maple syrup urine disease | 1:150,000 (1:1,000 in Mennonites) | Branched-chain 3-keto acid dehydrogenase |
What does inborn error of metabolism mean?
Inborn errors of metabolism are rare genetic (inherited) disorders in which the body cannot properly turn food into energy. The disorders are usually caused by defects in specific proteins (enzymes) that help break down (metabolize) parts of food.
What are the consequences of inborn errors of metabolism?
Some findings in patients with IEM may include elevated acid levels in the blood, low blood sugar, high blood ammonia, abnormal liver function tests, and blood cell abnormalities. Certain patients may also have neurologic abnormalities such as seizures and developmental delays. Growth may also be affected.
What is the first inborn error of metabolism?
He is known for work that prefigured the “one gene-one enzyme” hypothesis, based on his studies on the nature and inheritance of alkaptonuria. His seminal text, Inborn Errors of Metabolism, was published in 1923….Epidemiology.
| Type of inborn error | Incidence | |
|---|---|---|
| Glycogen storage disease | 2.3 per 100 000 births | 1 in 43,000 |
What causes inborn errors of metabolism?
How is inborn errors of metabolism inherited?
Inborn errors of metabolism describes a class of over 1000 inherited disorders caused by mutations in genes coding for proteins that function in metabolism. Most of the disorders are inherited as autosomal recessive, whereas autosomal dominant and X-linked disorders are also present.
Can metabolic disorders be cured?
Treatment options for inherited metabolic disorders Enzyme replacement therapy in selected patients. Gene therapy in selected patients. Medications to reduce symptoms, such as pain or low blood sugar. Mineral supplementation.
What are inborn errors of metabolism and how are they treated?
Inborn errors of metabolism, also known as inherited metabolic diseases, constitute an important group of conditions presenting with neurologic signs in newborns. They are individually rare but collectively common. Many are treatable through restoration of homeostasis of a disrupted metabolic pathway.
What is the definition of congenital metabolic disorder?
Congenital metabolic disorders are a class of genetic diseases that result from lack of (or abnormality of) an enzyme or its cofactor that is responsible for a clinically significant block in a metabolic pathway. As a result, abnormal accumulation of a substrate or deficit of the product is observed.
What can be done about a block in metabolism?
In general, the goals of treatment are to minimize or eliminate the buildup of toxic metabolites that result from the block in metabolism while maintaining growth and development. This may be accomplished by special modified diets, supplements and medications.