inborn errors of metabolism

 Inborn Errors of Metabolism

Genetic disease involving disorders of metabolism.

The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substance (substrates) in others (products).

Cause congenital metabolic disease/ inherited metabolic disease.

Inborn of metabolism (IEM) are conditions due to genetic defect related to synthesis, metabolism, transport or storage of biochemical compounds.

Result in deficiency of one or more enzyme required for formation or transport of protein.

Classification of Inborn Error of metabolism

1. Disturbance in synthesis

2. Accumulation of toxic compound; urea cycle deficit

3. Energy deficiency disease; mitochondrial disorder

4. Alpha-1 antitrypsin deficiency; cause lungs and liver disease.

Inborn Error of Metabolism Diseases

1. Phenylketonuria (PKU)

Increase level of substance (amino acid) called phenylalanine in blood.

2. Fructose Intolerance

3. Galactosemia

4. Maple sugar urine disease (MSUD)

5. Urea Cycle Disorder

6. Gaucher disease (lysosomal storage disorder)

Metabolic Disease

Carbohydrate

Protein

Lipid 

Nucleic acid

Organelle Disease

Lysozymes 

Mitochondria

Peroxisome

Cytoplasm