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Summary
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 COXPD3
ENCEPHALOMYOPATHY, RESPIRATORY FAILURE, AND LACTIC ACIDOSIS CONCENTRIC CARDIOMYOPATHY, HYPOTONIA, AND LACTIC ACIDOSIS
610505
OMIM = Online Medalian Inheritance of Men
168566
12q14.1
rare
autosomal recessive
mutation in the TSFM gene

symptoms
ataxia
blindness, visual loss, visual impairment
cardiomyopathy
cardiomyopathy, dilated
cognitive impairment
developmental delay
dystonia
early death
encephalopathy
fetal akinesia/hypokinesia sequence
hypotonia
lactic acidosis
muscle weakness
onset, neonatal
optic atrophy
optic neuropathy
respiratory insufficiency
rhabdomyolysis
seizures
tremor or twitching
laboratory finding
MRI, brain, abnormalities -
L-Lactic acid increasedserum
Creatine kinase increasedserum
Ammonia increasedserum
Literature
Musumeci O,et al.Recurrent rhabdomyolysis due to muscle +¦-enolase deficiency: very rare or underestimated?J Neurol261122424-24282014
Kreuder J,et al.Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase AN Engl J Med334171100-11041973
Comi GP,et al.Beta-enolase deficiency, a new metabolic myopathy of distal glycolysisAnn Neurol502202-2072001
Tegtmeyer LC,et al.Multiple phenotypes in phosphoglucomutase 1 deficiencyN Engl J Med3706533-5422014
Lai CJ,et al.Cognitive Development in Infantile-Onset Pompe Disease Under Very Early Enzyme Replacement TherapyJ Child Neurol3141617-16212016