[Changes in carnitine metabolism. A case report about probable partial deficiency of muscle carnitine palmitoyltransferase].
The main alterations of carnitine metabolism are mentioned synthetically in order to point up the heterogeneity of clinical, biohumoral, instrumental and enzymatic pictures deriving from the deficiency of carnitine-palmitoyl-transferase. We describe a case with a slight deficiency of CPT, showing a typical symptomatology, but with some peculiarities, such as the absence of myoglobinuria and, in particular way, the presence of haemolysis caused by a long fasting, that doesn't find an easy interpretation. On the basis of some experimental dates described in literature, we may suppose that the red blood cells might be somewhat affected by the consequence of the metabolical deficiency (change). The case is mentioned also in order to focus the attention on the possibility of diagnosing this disease since childhood, before the symptoms deriving as a consequence from the enzymatic deficiency are completely clear. And this in order to allow an early dietetic and therapeutic treatment.
De Prà
M
M
Ospedale Generale Provinciale di Carrara, Divisione di Pediatria, Italia.
Oberti
F
F
De Benedittis
A
A
D001706:Biopsy; D002331:Carnitine / Q000097:blood*; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency*; D002648:Child; D003937:Diagnosis, Differential; D006012:Glycogen Storage Disease Type V / Q000175:diagnosis; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis* / Q000473:pathology; D009132:Muscles / Q000201:enzymology* / Q000473:pathology
D002334:Carnitine O-Palmitoyltransferase; D002331:Carnitine
Le alterazioni del metabolismo della carnitina. A proposito di un caso di probabile carenza parziale della carnitina-palmitoil-transferasi muscolare.