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Summary
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY
ATP SYNTHASE DEFICIENCY
604273
OMIM = Online Medalian Inheritance of Men
254913
17p11.2
rare
autosomal recessive
mutation in the TMEM70 gene
symptoms
cardiomegaly
cardiomyopathy
cardiomyopathy, hypertrophic
dysmorphism
epilepsy
failure to thrive
hepatomegaly (large liver)
hypotonia
lactic acidosis
microcephaly (<2 SD for age)
onset, infancy
psychomotor retardation
seizures
short stature
small for gestational age (SGA), intrauterine growth retardation (IUGR)
laboratory finding
L-Lactic acid increasedplasma
3-Methylglutaconic acid normal-increasedurine
Literature
Huemer M,et al.Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancyOrphanet J Rare Dis901612014
Huemer M,et al.Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelinesJ Inherit Metab Dis3861007-10192015
Rymen D,et al.COG5-CDG: expanding the clinical spectrumOrphanet J Rare Dis9402012
Laufman O,et al.Deficiency of the Cog8 subunit in normal and CDG-derived cells impairs the assembly of the COG and Golgi SNARE complexesTraffic14101065-10772013
Paul EA,et al.Atypical glomerulopathy associated with the cblE inborn error of vitamin B12 metabolismPediatr Nephrol2871135-11392013
Fung CW,et al.COG5-CDG with a Mild Neurohepatic PresentationJIMD Rep3067-702012
Ng BG,et al.Identification of the first COG-CDG patient of Indian originMol Genet Metab1023364-3672011
Barone R,Fiumara A, Jaeken JCongenital disorders of glycosylation with emphasis on cerebellar involvementSemin Neurol343357-3662014