Organic acidemia

Organoazidopathie is an umbrella term for a group of metabolic diseases that affect the degradation of amino acids or fatty acids and predominantly follow an autosomal recessive pattern of inheritance. By reducing interference occurs in the organism an accumulation of organic acids, which cause the toxic metabolic intermediates intoxication.

Of the poisoning urea cycle, gluconeogenesis, mitochondrial respiratory chain and the renal Karnitinreabsorption are predominantly affected, resulting in the corresponding clinical symptoms of hyperammonemia, hypoglycemia, lactic acidosis, ketosis and Karnitinmangels. Characteristic of the course of acidurias is a neonatal metabolic crisis, when there is a severe metabolic encephalopathy few days after their first food. The further course is mainly dar. intermittently and neurodegenerative

See also: metabolic disorder, metabolic, hereditary diseases

• Metabolic disease