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Summary
MITOCHONDRIAL COMPLEX IV DEFICIENCY
CYTOCHROME c OXIDASE DEFICIENCY
220110
OMIM = Online Medalian Inheritance of Men
254905
mutations in more than 30 genes
  • avoidance of specific drugs
  • cofactor supplementation
  • L-carnitine
  • low-carbohydrate diet
  • sodium bicarbonate
  • THAM
rare
autosomal recessive
mitochondrial
Mutations in several mitochondrial COX genes
symptoms
anemia
cardiomegaly
cardiomyopathy
early death
encephalopathy
epilepsy
failure to thrive
Fanconi syndrome
feeding difficulties, poor feeding
hearing defect, deafness
hepatomegaly (large liver)
ketosis, ketoacidosis
lactic acidosis
limb abnormalities, limb deformities
liver involvement or dysfunction
mental retardation
motor retardation
muscle weakness
myopathy
neurological deterioration
onset, neonatal
poor crying
ptosis (drooping eyelid)
renal failure, acute/chronic
respiratory insufficiency
seizures
swallowing difficulties
tubulopathy
laboratory finding
Ketone bodies +++urine
L-Lactic acid100.0075000.003.5029.30mmol/mol creatinineurineadult
L-Lactic acid1.7012.000.502.10mmol/lcerebrospinal fluid
L-Lactic acid1.006.000.901.80mmol/lblood
pH7.007.407.357.45no unitblood
Literature
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Martinez Met al.Docosahexaenoic acid - a new therapeutic approach to peroxisomal-disorder patients: experience with two casesNeurology4301389-13971993
Ginsberg HNet al.Suppression of apolipoprotein B production during treatment of cholesterol ester storage disease with lovastatinJ Clin Invest80016921987
Tanaka Set al.Recurrent pain attacks in a 3-year-old patient with myoclonus epilepsy associated with ragged-red fibers (MERRF): a single-photon emission computed tomographic (SPECT) and electrophysiological studyBrain Dev190205-2081997
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Jaeken JDisorders of small peptidesin Fernandes J, Saudubray JM, van den Berghe (eds): Inborn metabolic diseases, diagnosis and treatment Berlin, Springer Verlag00201-2031996