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Summary
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (PEOB2)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 2
616479
OMIM = Online Medalian Inheritance of Men
329336
2p25.3
very rare
autosomal recessive
mutation in the RNASEH1 gene
symptoms
ataxia
cerebellar atrophy or hypoplasia
cognitive impairment
dysphagia
exercise intolerance
fatigue, severe or unusual
gait disturbance
hyperreflexia
muscle atrophy
muscle weakness
neuropathy
onset, adulthood
ophthalmoplegia
pain, muscle
progressive neurologic defect
ptosis (drooping eyelid)
pyramidal signs
respiratory insufficiency
laboratory finding
Creatine kinase U/lserum
L-Lactic acid mmol/lserum
Literature
Baresova V,et al.Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiencyHum Mol Genet2171534-15432012
Spaapen LJ,et al.Urinary D-4-hydroxyphenyllactate, D-phenyllactate and D-2-hydroxyisocaproate, abnormalities of bacterial originJ Inherit Metab Dis104383-3901987
Haan E,et al.Severe illness caused by the products of bacterial metabolism in a child with a short gutEur J Pediatr144163-651985
Donti TR,et al.Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrumMol Genet Metab Rep8061-662016