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The Inborn Errors Of Metabolism

A block in a metabolic pathway caused by defetcs of single genes that code for enzymes results in accumulation of metabolic intermediates and  a deficiency of the end product of a particular metabolic pathway. This is called inborn error of metabolism.

Mostly inborn errors of metabolism are inherited by autosomal ressesive or X-linked ressesive inheritance.

A lot of the inborn errors of metabolism can be screened in the newborn period and treated succecfully by dietary restrictions or supplementations.

Family history and some clinical signs & symptoms can help to indicate inborn errors of metabolism. DNA testing can be used to identify the abnormality.

Signd and Symptoms:

• Growth failure, weight loss

• Poor feeding, vomiting

• Jaundice, heart failure

• Hypoglycemia with fast heart rate

DNA

Common Metabolic Disorders:

• Phenylketonuria (Elevated blood and urine phenylalanine. Autosomal recessive)

• Galactosemia (Problem with metabolizing galactose sugar. Autosomal recessive)

Mucopolysaccharidoses (Absence or malfunctioning of lysosomal enzymes → Needed to break down glycosaminoglycans/ also called mucopolysacaharidosis, Autosomal recessive)

Familial Hyperchloesterolemia (High cholesterol and LDL levels → cardiovascular disease.. Mutation in LDL receptor due to autosomal dominant trait.)

• Cystic Fibrosis (Does not alter an enzymatic activity but a transmembrane protein{Cystic Fibrosis Transmembrane Conductance Regulator}. Autosomal recessive.)

 

Newborn screening is done for presymptomatic detection and prevention of genetic disease. It is an effective public health strategy for treatable disorders.

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