[Severe hypoglycemia and clouding of consciousness caused by deficiency of the connecting link acyl CoA dehydrogenase].
A case of severe hypoglycaemia precipitated by fasting in a child is described. As a result of the hypoglycaemia, the patient became brain damaged. The mechanism causing the hypoglycaemia was a defect in the fatty acid beta-oxidation enzyme, the connecting link acyl-CoA dehydrogenase. During a prolonged fast, fatty acids are not converted to acetyl-CoA and ketone bodies which participate in Kreb's cycle for production of energy to a sufficient extent. This result in non-ketotic hypoglycaemia with excretion of organic acids in the urine. As a rule, the symptoms occur for the first time during the first to second years of life in connection with common infectious diseases, with vomiting followed by clouding of consciousness and possibly coma, but the condition may also present with sudden unexpected death. Treatment consists of intravenous glucose. The diagnosis is established by testing the urine for hexanoylglycin and other substances and is confirmed by culture of skin fibroblasts and measurement of beta-oxidation activity. The disease is an autosomally recessive inherited condition. In families where there have been cases of unexplained hypoglycaemia and clouding of consciousness and cases of unexplained death in infancy or "near misses", all of the family members should be offered examination for the above mentioned enzyme deficiency.
Dehlholm
B
B
Arhus Kommunehospital, paediatrisk afdeling.
Jespersen
T W
TW
Gregersen
N
N
Christensen
E
E
D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency*; D001925:Brain Damage, Chronic / Q000209:etiology; D002675:Child, Preschool; D005215:Fasting / Q000009:adverse effects; D005260:Female; D006801:Humans; D007003:Hypoglycemia / Q000201:enzymology / Q000209:etiology*; D007223:Infant; D014474:Unconsciousness / Q000201:enzymology / Q000209:etiology*
D044944:Acyl-CoA Dehydrogenases