Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency.
An 11-month-old girl presented acute episodes of hypoglycaemia and hepatic encephalopathy reminiscent of Reye syndrome and 3-hydroxydicarboxylic aciduria. The patient showed peculiar clinical manifestations of severe sensory-motor neuropathy, pigmentary retinopathy, and cardiomyopathy. She died of cardiac failure. Pathological studies of peripheral nerve showed signs of axonal neuropathy and demyelination. Enzymatic studies in cultured fibroblasts showed a deficiency of mitochondrial long-chain 3-hydroxyacyl-CoA-dehydrogenase. Peripheral nerve involvement and retinal pigmentary degeneration have as yet not been described in patients with proven defects of mitochondrial beta-oxidation.
Bertini
E
E
Department of Metabolism, Children's Hospital Bambino Gesù IRCCS, Rome, Italy.
Dionisi-Vici
C
C
Garavaglia
B
B
Burlina
A B
AB
Sabatelli
M
M
Rimoldi
M
M
Bartuli
A
A
Sabetta
G
G
DiDonato
S
S
D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency*; D044942:Acyl-CoA Dehydrogenase, Long-Chain; D001669:Biochemical Phenomena; D001671:Biochemistry; D001706:Biopsy; D002312:Cardiomyopathy, Hypertrophic / Q000150:complications*; D044943:Fatty Acid Desaturases / Q000172:deficiency*; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006333:Heart Failure / Q000209:etiology; D015417:Hereditary Sensory and Motor Neuropathy / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D006801:Humans; D007223:Infant; D012174:Retinitis Pigmentosa / Q000150:complications*; D013497:Sural Nerve / Q000473:pathology
D015094:3-Hydroxyacyl CoA Dehydrogenases; D044943:Fatty Acid Desaturases; D044942:Acyl-CoA Dehydrogenase, Long-Chain