[Carnitine deficiency syndrome. Two cases].
Due to its rarity and biochemical and clinical heterogeneity, carnitine deficiency syndrome is difficult to diagnose in those cases where there are no past episodes of the disease. The paper describes two cases: one of a child aged 2 years and 10 months in whom tests permitted the diagnosis of a primary systemic form of carnitine deficiency; the other case concerned a 3 month-old baby girl who died unexpectedly due to hypothesised metabolic disease with secondary carnitine deficiency. The similarities and differences observed in the two cases are discussed.
Meroni
R
R
Divisione Pediatrica Mariani, Ospedale Niguarda Ca' Granda, Milano.
Tartara
R
R
Tambussi
A M
AM
D002331:Carnitine / Q000172:deficiency*; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics; D010375:Pedigree; D013577:Syndrome
D002331:Carnitine
La sindrome da deficit di carnitina. Descrizione di 2 casi.