Visit Metagene.de!
Summary
MITOCHONDRIAL COMPLEX II DEFICIENCY
SUCCINATE CoQ REDUCTASE DEFICIENCY
252011
OMIM = Online Medalian Inheritance of Men
3208
5p15.33, 11q23.1, 19q13.12
  • riboflavin
rare (<1:1000.000)
autosomal recessive
symptoms
ataxia
cardiomyopathy
cardiomyopathy, dilated
cardiomyopathy, hypertrophic
cardiomyopathy, mixed type
cardiomyopathy, noncompaction
dystonia
early death
encephalopathy
exercise intolerance
hypotonia
lactic acidosis
leukoencephalopathy
mental retardation
motor retardation
muscle weakness
myoclonus
nystagmus
onset, infant
onset, newborn
seizures
short stature
laboratory finding
Lactate increasedblood
Literature
Salvi Set al.Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndromeNeurology575911-9142001
Storr HLet al.Hyperplasia of adrenal rest tissue causing a retroperitoneal mass in a child with 11 beta-hydroxylase deficiencyHorm Res60299-1022003
Hahn KAet al.X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28Am J Hum Genet7051349-13562002
Bizzi Aet al.X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8Ann Neurol522227-2312002
McKinney JTet al.Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase geneMol Genet Metab822112-1202004
Neville BGet al.Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorderBrain002005
deGrauw TJet al.The clinical syndrome of creatine transporter deficiencyMol Cell Biochem244045-482003
Pritchard KA JrShi Y, Konduri GGTetrahydrobiopterin in pulmonary hypertension: pulmonary hypertension in guanosine triphosphate-cyclohydrolase-deficient miceCirculation111162022-20242005
Neville BGet al.Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorderBrain002005