Fatal infantile mitochondrial encephalomyopathy with complex I and IV deficiencies.
A 4-month-old male infant had a fatal infantile mitochondrial disease associated with cardiomyopathy. He had elevated lactate concentrations in blood and cerebrospinal fluid and an increased lactate/pyruvate ratio. Histochemical analysis of muscle biopsy revealed several ragged-red fibers on modified Gomori trichrome stain and mildly decreased cytochrome c oxidase (complex IV) activity. Complex I and IV activities of the respiratory chain in muscle were decreased to about 35% of normal values biochemically; subunits of the two complexes were decreased nonselectively on immunoblotting. Mitochondrial DNA analysis failed to detect any mutation. Complex I and IV deficiencies should be considered as one of the causes of fatal infantile mitochondrial disease.
Division of Ultrastructural Research; National Institute of Neuroscience, Tokyo, Japan.
T
T
Nagai
Y
Y
Tuchiya
Y
Y
Taguchi
R
R
Sakuta
T
T
Ichiki
I
I
Nonaka
D000140:Acidosis, Lactic / Q000235:genetics / Q000473:pathology*; D000596:Amino Acids / Q000097:blood; D001706:Biopsy; D002331:Carnitine / Q000172:deficiency; D030401:Cytochrome-c Oxidase Deficiency; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008854:Microscopy, Electron; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics / Q000473:pathology*; D009132:Muscles / Q000473:pathology; D016660:NAD(P)H Dehydrogenase (Quinone) / Q000172:deficiency*; D009460:Neurologic Examination
D000596:Amino Acids; D016660:NAD(P)H Dehydrogenase (Quinone); D002331:Carnitine