Engelsk titel: Carnitine transporter deficiency in two Faeroese children
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Författare:
Osa E
;
Simonsen H
Email: elmarosa@mail.dk
Språk: Dan
Antal referenser: 4
Dokumenttyp:
Fallbeskrivning
UI-nummer: 04121696
Sammanfattning
Carnitine transporter deficiency is an inherited disorder involving the beta oxidation of long-chain fatty acids. We describe two recent cases from the Faeroe Islands in infants aged 14 months (A) and 4 months (B). Both admissions were precipited by gastroenteritis and presented with hypoglycaemia and cerebral, hepatic and cardiorespiratory symptoms. Patient A received oral pivampicillin and succumbed to cardiac arrest. Patient B was treated with intravenous glucose and carnitine and was eventually discharged from hospital. Both were homozygous for the N32S mutations in the OCTN2 gene.