[Complex I (NADH coenzyme-Q-reductase) deficiency, MELAS syndrome and hypertrophic cardiomyopathy].
A 24-year-old male had a deficiency of the complex I (NADH coenzyme-Q-reductase) of the mitochondrial respiratory chain, which clinically presented as a mitochondrial encephalomyopathy, with lactic acidosis and stroke-like episodes (MELAS syndrome). The encephalopathic episodes were preceded by migraine and were characterized by focal deficit signs, motor partial seizures and hypodense areas in the CT scan. An echocardiographic diagnosis of hypertrophic cardiomyopathy without intracavitary thrombi was made. It is suggested that hypertrophic cardiomyopathy is caused by the mitochondrial abnormalities that have been reported in the myocardium, and that migraine and cerebral infarctions are associated with abnormalities in the mitochondria from the endothelium and smooth muscle fibres of the cerebral small arteries and arterioles.
Márquez
C
C
Servicio de Bioquímica, Hospital 12 de Octubre, Madrid.
Bautista
J
J
Arenas
J
J
Segura
D
D
Chinchón
I
I
Rafel
E
E
Campos
Y
Y
Huerta
R
R
D000140:Acidosis, Lactic / Q000201:enzymology; D000328:Adult; D001927:Brain Diseases / Q000201:enzymology*; D002312:Cardiomyopathy, Hypertrophic / Q000201:enzymology*; D002561:Cerebrovascular Disorders / Q000209:etiology; D003677:Deficiency Diseases / Q000150:complications / Q000175:diagnosis; D006801:Humans; D008297:Male; D008931:Mitochondria, Muscle / Q000201:enzymology; D009135:Muscular Diseases / Q000201:enzymology* / Q000473:pathology; D016660:NAD(P)H Dehydrogenase (Quinone); D011808:Quinone Reductases / Q000172:deficiency*; D013577:Syndrome
D016660:NAD(P)H Dehydrogenase (Quinone); D011808:Quinone Reductases
Déficit de complejo I (NADH coenzima-Q-reductasa), síndrome MELAS y miocardiopatía hipertrófica.