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Summary
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 COXPD14
614946
OMIM = Online Medalian Inheritance of Men
319519
6p25.1
rare
autosomal recessive
mutation in the FARS2 gene
symptoms
anemia
blindness, visual loss, visual impairment
cerebellar atrophy or hypoplasia
cerebral atrophy
developmental delay
dysmorphism
early death
encephalopathy
epilepsy
feeding difficulties, poor feeding
growth retardation, poor growth
hearing defect, deafness
hypotonia
lactic acidosis
microcephaly (<2 SD for age)
myoclonus
onset, infancy
paraparesis/paraplegia
seizures
spastic paraplegia
thrombopenia, thrombocytopenia
laboratory finding
Lactic acid increasedserum
MRI, brain, abnormalities -
EEG abnormalities -
Literature
Fraser JL,Venditti CPMethylmalonic and propionic acidemias: clinical management updateCurr Opin Pediatr286682-6932016
Baumgartner MR,et al.Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemiaOrphanet J Rare Dis901302014
Fraser JL,Venditti CPMethylmalonic and propionic acidemias: clinical management updateCurr Opin Pediatr286682-6932016
Pichler K,et al.A novel therapeutic approach for LPIN1 mutation-associated rhabdomyolysis--The Austrian experienceMuscle Nerve523437-4392015
Raval DB,et al.Methylmalonic acidemia (MMA) in pregnancy: a case series and literature reviewJ Inherit Metab Dis385839-8462015
Kido J,et al.Pulmonary artery hypertension in methylmalonic acidemiaHemodial Int212E25-292017
Martinez Alvarez,et al.Optic neuropathy in methylmalonic acidemia and propionic acidemiaBr J Ophthalmol100198-1042016
Nunes D,et al.LPIN1 deficiency: A novel mutation associated with different phenotypes in the same familyMol Genet Metab Rep9029-302016
Hamel Y,et al.Acute rhabdomyolysis and inflammationJ Inherit Metab Dis384621-6282015