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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
onset, infancy
optic atrophy
ptosis (drooping eyelid)
renal dysfunction, renal defects
seizures
tubulopathy
laboratory finding
Lactic acid3.00 mmol/lplasma
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