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INBORN ERRORS OF METABOLISM

The errors of IEM can be divided as a defect in the metabolism of

  1. Carbohydrates
  2. Amino acids
  3. Lipids
  4. Lysosomal storage disorders

~There are many more types of IEM with various classifications. The above mentioned are common and more focused in exams

The IEM of lipids is further divided as

ENZYME DEFECTS AND LIPID STORAGE DEFECTS

ENZYME DEFECTS ARE DIVIDED FURTHER AS BELOW

  1. Fatty acid oxidation defect
    1. Intramitochondrial oxidation pathway defect
    2. Transportation of fatty acid into mitochondria defect
  2. Very long chain fatty acid defects or Peroxisomal disorders

DISORDERS OF Intra- MITOCHONDRIAL OXIDATION PATHWAY

IEM in CARBOHYDRATES

2 types

  1. Enzyme defects
  2. Glycogen storage

ENZYME DEFECTS

Lysosomal defects -IN BORN ERRORS OF METABOLISM

  • Hurler and Schleine are also called Mucopolysaccharide type 1
  • Hunter syndrome is also called Mucopolysaccharide type 2


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