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Summary
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 COXPD24
616239
OMIM = Online Medalian Inheritance of Men
444458
11q14.1
rare
autosomal recessive
mutation in the NARS2 gene
symptoms
cerebral atrophy
dysarthria
feeding difficulties, poor feeding
hypotonia
intellectual disability/intellectual developmental disorder (ID/ IDD)
lactic acidosis
microcephaly (<2 SD for age)
muscle atrophy
muscle weakness
myopathy
nystagmus
optic atrophy
ptosis (drooping eyelid)
renal dysfunction, renal defects
seizures
tubulopathy
laboratory finding
Lactic acid increasedserum
Creatine kinase increasedserum
Literature
Li N,et al.Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase DeficiencyInt J Mol Sci184E8572017
Santer R,et al.A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysisOrphanet J Rare Dis110442016
Chinen Yet al.Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in JapanJ Hum Genet002005
Baker P II,et al.Hereditary Fructose IntoleranceGeneReviews-« InternetGeneReviews-« Internet002015