[Type II carnitine palmitoyl transferase deficiency complicated by acute respiratory failure].
Carnitine palmitoyl transferase (CPT) deficiencies can realise distinct clinical presentations. The best known is the muscular form with episodic muscle necrosis and paroxysmal myoglobinuria after prolonged exercise, in young adults, and results from decreased CPT II activity. In this paper, we report on an observation of a patient with a severe CPT II deficiency who presented a respiratory failure during an attack of muscle necrosis. The severity of the symptomatology were associated with a conspicuous reduction of CPT II residual activity in leucocytes and in fibroblasts. Fasting test showed an hypoketogenesis. These results support the concept that CPT II deficiency is ubiquitous, even though injury is restricted to the skeletal muscle.
Joutel
A
A
Service de Neurologie, CHU Bicêtre.
Moulonguet
A
A
Demaugre
F
F
Janowski
M
M
Lacroix-Jousselin
C
C
Said
G
G
D000293:Adolescent; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency*; D003402:Creatine Kinase / Q000097:blood; D006801:Humans; D008297:Male; D009135:Muscular Diseases / Q000235:genetics; D009212:Myoglobinuria / Q000209:etiology; D012131:Respiratory Insufficiency / Q000209:etiology*
D002334:Carnitine O-Palmitoyltransferase; D003402:Creatine Kinase
Déficit en carnitine palmityl transférase type II complique d'une insuffisance respiratoire aiguë.