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Summary
BENIGN INFANTILE MITOCHONDRIAL MYOPATHY (BIMM)
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT MMIT
500009
OMIM = Online Medalian Inheritance of Men
254864
unknown
rare
autosomal recessive
Disorder of nuclear OXPHOS genes improvement spontaneously with 6-9 months
Benign COX deficiency is better described as reversible infantile respiratory chain deficiency [Uusimaa J 2011]
symptoms
areflexia
failure to thrive
feeding difficulties, poor feeding
hepatomegaly (large liver)
hyperreflexia
hypotonia
lactic acidosis
muscle weakness
onset, newborn
respiratory distress
laboratory finding
Lactate 0.901.80increasedblood
Cytochrome c oxidase 52.00186.00decreased activitymuscle
Complex IV activity 100.00decreased activitymuscle
Literature
Romstad Aet al.Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE)Hum Genet1076546-5532000
Leonard JVWalter JH, McKiernan PJThe management of organic acidaemias: the role of transplantationJ Inherit Metab Dis242309-3112001
Olpin SEet al.Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiencyJ Inherit Metab Dis284533-5442005
Leonard JVWalter JH, McKiernan PJThe management of organic acidaemias: the role of transplantationJ Inherit Metab Dis242309-3112001
Shevell MIet al.Glutaric acidemia type II: neuroimaging and spectroscopy evidence for developmental encephalopathyPediatr Neurol120350-3531994
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Kelley RIKratz L3-methylglutaconic acidemia in Smith-Lemli-Opitz syndrome Pediatr Res375671-6741995
Gu YHet al.A survey of Japanese patients with Menkes disease from 1990 to 2003: incidence and early signs before typical symptomatic onset, pointing the way to earlier diagnosisJ Inherit Metab Dis284473-4782005
Gordon KEet al.Successful treatment of painful crises of Fabry disease with low dose morphinePediatr Neurol120250-2511995