Best answer: What are inborn metabolic disorders?

What are the most common inborn errors of metabolism?

Such prototypical inborn errors of metabolism include PKU, ornithine transcarbamylase deficiency, methylmalonicaciduria, medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, galactosemia, and Gaucher’s disease.

What are the 5 metabolic disorders?

Examples include:

  • Familial hypercholesterolemia.
  • Gaucher disease.
  • Hunter syndrome.
  • Krabbe disease.
  • Maple syrup urine disease.
  • Metachromatic leukodystrophy.
  • Mitochondrial encephalopathy, lactic acidosis, stroke-like episodes (MELAS)
  • Niemann-Pick.

What are congenital metabolic disorders?

Congenital metabolic disorders are pathologic presentations as a result of defects which occur due to the synthesis or catabolism of proteins, carbohydrates and fatty acids.

What are some 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.

What are the other 3 ways that metabolic disorders are categorized?

These disorders can be classified into three sub-groups including: (I) intoxication due to defects in the intermediary metabolic pathway resulting in the accumulation of toxic compounds proximal to the metabolic block [example: urea cycle defect (UCD), amino acid disorders]; (II) deficiency in energy production or …

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What causes inborn errors of metabolism?

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.

How many inborn errors of metabolism are there?

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.

What are some examples of inherited disorders of carbohydrate metabolism?


  • Acid mucopolysaccharides.
  • Galactose-1-phospate uridyltransferase.
  • Galactosemia.
  • Hereditary fructose intolerance.
  • Hunter syndrome.
  • Hurler syndrome.
  • McArdle syndrome.
  • Morquio syndrome.

What can newborn screening detect?

The tests often scan for genetic and metabolic abnormalities, hearing problems, specific heart problems, and other conditions that can hinder their development. Newborn babies that have health conditions may not exhibit any symptoms at infancy. If left untreated, the baby may develop serious problems.

What is the most common metabolic disease of childhood?

Type 1 diabetes is the most common metabolic disease in childhood and adolescence.

What is an example of a metabolic disease?

Metabolic syndrome is a cluster of conditions that occur together, increasing your risk of heart disease, stroke and type 2 diabetes. These conditions include increased blood pressure, high blood sugar, excess body fat around the waist, and abnormal cholesterol or triglyceride levels.