A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy.
A 45-year-old male patient had an episode of acute renal failure with myoglobinuria, myalgias, weakness, and markedly increased serum CK levels. Similar episodes had occurred in the past. Carnitine palmitoyl-transferase II (CPT II) deficiency was documented both biochemically and genetically. Interestingly, muscle biopsy also showed some ragged red fibers (RRF) and complete mitochondrial DNA (mtDNA) sequence disclosed a homoplasmic T3394C point mutation. This mutation is described in Leber's hereditary optic neuropathy (LHON) or in patients with diabetes mellitus.
Sciacco
Monica
M
Fondazione IRCCS Ospedale Maggiore-Policlinico Mangiagalli e Regina Elena, Dipartimento di Neuroscienze, Centro Dino Ferrari, Via Francesco Sforza, 35-20122 Milano, Italy. maurizio.moggio@unimi.it
Prelle
Alessandro
A
Fagiolari
Gigliola
G
Bordoni
Andreina
A
Crimi
Marco
M
Di Fonzo
Alessio
A
Ciscato
Patrizia
P
Lamperti
Costanza
C
D'Adda
Elisabetta
E
Jann
Stefano
S
Bresolin
Nereo
N
Comi
Giacomo P
GP
Moggio
Maurizio
M
D058186:Acute Kidney Injury / Q000209:etiology / Q000503:physiopathology; D001483:Base Sequence / Q000235:genetics; D001706:Biopsy; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency* / Q000235:genetics; D003402:Creatine Kinase / Q000097:blood; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D028361:Mitochondrial Diseases / Q000201:enzymology* / Q000235:genetics* / Q000503:physiopathology; D018485:Muscle Fibers, Skeletal / Q000201:enzymology / Q000473:pathology; D018908:Muscle Weakness / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology / Q000503:physiopathology; D009135:Muscular Diseases / Q000150:complications / Q000201:enzymology* / Q000503:physiopathology; D009212:Myoglobinuria / Q000209:etiology / Q000503:physiopathology; D017354:Point Mutation / Q000235:genetics*; D013577:Syndrome
D004272:DNA, Mitochondrial; D002334:Carnitine O-Palmitoyltransferase; D003402:Creatine Kinase