List Of Enzyme Deficiency Diseases?

Looking for more information, support or ways to get involved?

  • Acid maltase deficiency (Pompe disease)
  • Carnitine deficiency.
  • Carnitine palmityl transferase deficiency.
  • Debrancher enzyme deficiency (Cori or Forbes disease)
  • Lactate dehydrogenase deficiency.
  • Myoadenylate deaminase deficiency.

What diseases are caused by enzymes?

Examples include:

  1. Familial hypercholesterolemia.
  2. Gaucher disease.
  3. Hunter syndrome.
  4. Krabbe disease.
  5. Maple syrup urine disease.
  6. Metachromatic leukodystrophy.
  7. Mitochondrial encephalopathy, lactic acidosis, stroke-like episodes (MELAS)
  8. Niemann-Pick.

How is enzyme deficiency diagnosed?

Branching Enzyme Deficiency (Type IV Glycogenosis)The muscle biopsy reveals periodic acid–Schiff stain–positive, diastase-fast deposits. The diagnosis is confirmed by enzyme assay, and mutations may be found in the GBE gene. Treatment is supportive, including liver transplantation in early childhood.

What is an enzyme deficiency disease?

Enzyme deficiencies, or the absence of these enzymes, are inherited defects that result in a number of life-changing or life-threatening conditions: MPS: The mucopolysaccharidoses are a group of inherited diseases in which a defective or missing enzyme causes complex sugar molecules to accumulate in cells.

What are the most common metabolic disorders?

Diabetes is the most common metabolic disease.

Hereditary hemochromatosis

  • liver cirrhosis.
  • liver cancer.
  • diabetes.
  • heart disease.

Leave a Reply

Your email address will not be published. Required fields are marked *