Inborn errors of metabolism made simple
INBORN ERRORS OF METABOLISM
The errors of IEM can be divided as a defect in the metabolism of
- Carbohydrates
- Amino acids
- Lipids
- 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
- Fatty acid oxidation defect
- Intramitochondrial oxidation pathway defect
- Transportation of fatty acid into mitochondria defect
- Very long chain fatty acid defects or Peroxisomal disorders
DISORDERS OF Intra- MITOCHONDRIAL OXIDATION PATHWAY
IEM in CARBOHYDRATES
2 types
- Enzyme defects
- 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