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Summary
MITOCHONDRIAL COMPLEX I DEFICIENCY
NADH-COENZYME Q REDUCTASE DEFICIENCY
252010
OMIM = Online Medalian Inheritance of Men
2609
1q24.2 2q33.1 2q33.3 3p21.31 5q11.2 5q12.1 6q16.1 11q13.2 11q24.2 14p11.2 15q11.2 18p11.22 19p13.3 20p12.1 Xq24
rare
autosomal recessive
X-linked dominant
mitochondrial
symptoms
ataxia
blindness, visual loss, visual impairment
cardiomyopathy
cardiomyopathy, dilated
cardiomyopathy, hypertrophic
cardiomyopathy, mixed type
dystonia
early death
encephalopathy
epilepsy
failure to thrive
feeding difficulties, poor feeding
growth retardation
hearing defect, deafness
hypoglycemia
hypotonia
irritability
liver involvement or dysfunction
macrocephaly (large calvaria, >2 SD for age)
motor retardation
nystagmus
onset, infancy
optic atrophy
ptosis (drooping eyelid)
pyramidal signs
seizures
strabismus
tachypnea, hyperpnea, dyspnea, respiratory distress
temperature instability
vomiting
laboratory finding
L-Lactic acid increasedblood
L-Lactic acid increasedcerebrospinal fluid
Alanine increasedserum
Literature
Ponzone Aet al.Dihydropteridine reductase deficiency in man: from biology to treatmentMed Res Rev242127-1502004
Oerbeck Bet al.Congenital hypothyroidism: influence of disease severity and L-thyroxine treatment on intellectual, motor, and school-associated outcomes in young adultsPediatrics1124923-9302003
Poggiani Cet al.Darrow-Gamble disease: ultrasonographic and radiographic findingsPediatr Radiol23165-661993
Franscini Net al.Critical role of interleukin-1beta for transcriptional regulation of endothelial 6-pyruvoyltetrahydropterin synthaseArterioscler Thromb Vasc Biol2311e50-532003
Chien YHet al.Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutationsJ Inherit Metab Dis248815-8232001