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Summary
INFANTILE CEREBELLAR-RETINAL DEGENERATION (ICRD)
614559
OMIM = Online Medalian Inheritance of Men
318850
22q13.2
rare
autosomal recessive
mutation in the aconitase-2 gene
symptoms
ataxia
cerebellar atrophy or hypoplasia
cerebral atrophy
failure to thrive
hearing defect, deafness
hyporeflexia
hypotonia
microcephaly (<2 SD for age)
muscle atrophy
nystagmus
onset, childhood
onset, infancy
onset, neonatal
optic atrophy
psychomotor retardation
retinal dystrophy
seizures
small for gestational age (SGA), intrauterine growth retardation (IUGR)
strabismus
white matter changes, abnormalities
laboratory finding
MRI, brain, abnormalities -
MRI, brain, white matter abnormalities -
cis-Aconitic Acid +€mol/lplasma
Isocitric acid +€mol/lplasma
2-Oxoglutaric acid +€mol/lplasma
Literature
Liszewski MC,et al.Respiratory Distress in Neonates: Underlying Causes and Current Imaging AssessmentRadiol Clin North Am554629-6442017
Kurtz I,Zhu QProximal renal tubular acidosis mediated by mutations in NBCe1-A: unraveling the transporters structure-functional propertiesFront Physiol403502013
Roetig AGenetics of mitochondrial respiratory chain deficienciesRev Neurol (Paris)1705309-3222014
Santos F,et alClinical and laboratory approaches in the diagnosis of renal tubular acidosisPediatr Nephrol30122099-21072015
Yaxley J,Pirrone CReview of the Diagnostic Evaluation of Renal Tubular AcidosisOchsner J164525-5302016
Delonlay P,Roetig A, Sarnat HBRespiratory chain deficienciesHandb Clin Neurol11301651-16662013