β-oxidation defect
| Classification according to ICD-10 | |
|---|---|
| E71.3 | Fatty acid metabolism disorders |
| ICD-10 online (WHO version 2019) | |
β-oxidation defect or fatty acid oxidation defect is an umbrella term for an inborn metabolic disorder that affects the breakdown of fatty acids - the so-called β-oxidation . In most cases, β-oxidation defects follow an autosomal recessive inheritance pattern and are classified as organoacidopathies .
A pronounced energy deficit, which occurs after prolonged fasting , is characteristic of β-oxidation defects. On the basis of a reduced ATP production of glucose-saving effect of the fatty acid degradation and eliminates the blood sugar level is lowered, at the same time greatly reduced Ketonkörpersynthese (hypoketonische hypoglycemia ). This state is particularly unfavorable for the brain, since in addition to its main energy source glucose , the alternative ketone bodies are also not available. If left untreated, this can lead to severe brain damage, metabolic coma, or death.
Biochemically, in addition to the energy deficit, accumulations of toxic fatty acid metabolites, which can cause intoxication in the organism , play a major role: in most β-oxidation defects, there is a carnitine deficiency and an increased NH 3 level in the blood.
In addition to the brain, the skeletal muscles , the heart and the liver are particularly affected . Clinically, this manifests itself in chronic muscle hypotension , acute rhabdomyolysis during exertion, cardiomyopathies and hepatopathies .
