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Summary
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 COXPD12
614924
OMIM = Online Medalian Inheritance of Men
314051
16p12.2
rare
autosomal recessive
mutation in the EARS2 gene
symptoms
blindness, visual loss, visual impairment
cardiac involvement, cardiac defects
cholestasis
cleft palate
developmental delay
dystonia
failure to thrive
hepatomegaly (large liver)
hypotonia
lactic acidosis
leukoencephalopathy
onset, infancy
onset, neonatal
ophthalmoplegia
paraparesis/paraplegia
psychomotor retardation
ptosis (drooping eyelid)
seizures
laboratory finding
Lactic acid increasedserum
MRI, brain, abnormalities -
Literature
Dercksen M,et al.Polyunsaturated fatty acid status in treated isovaleric acidemia patientsEur J Clin Nutr70101123-11262016
Lee H,et al.A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1)Am J Med Genet A167102470-24732015
Sag E,et al.A Rare Cause of Recurrent Acute Pancreatitis in a Child: Isovaleric Acidemia with Novel MutationPediatr Gastroenterol Hepatol Nutr20161-642017
Sperringer JE,Addington A, Hutson SMBranched-Chain Amino Acids and Brain MetabolismNeurochem Res4261697-17092017
Zaki OK,et al.Genotype-Phenotype Correlation in Patients with Isovaleric Acidemia: Comparative Structural Modelling and Computational Analysis of Novel VariantsHum Mol Genet26163105-31152017
Pinto A,et al.Dietary practices in isovaleric acidemia: A European surveyMol Genet Metab Rep12016-222017