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Summary
KCNJ10 DEFICIENY
EAST-SYNDROME SESAME-SYNDROME
612780
OMIM = Online Medalian Inheritance of Men
199343
1q23.2
very rare
autosomal recessive
mutation in the KCNJ10 gene
symptoms
ataxia
cerebellar atrophy or hypoplasia
enuresis nocturna
epilepsy
hearing defect, deafness
hypotonia
intellectual disability/intellectual developmental disorder (ID/ IDD)
metabolic alkalosis
neuropathy
onset, childhood
onset, infancy
onset, neonatal
peripheral neuropathy
polydipsia (increased drinking)
polyuria
psychomotor retardation
seizures
short stature
speech development, delayed, abnormal
tremor or twitching
laboratory finding
Magnesium mmol/lserum
Calcium mmol/lserum
Potassium mmol/lserum
Aldosterone ng/dlplasma
EEG abnormalities -
Literature
Fujitaki JM,et al.Spectrophotometric determination of acadesine (AICA-riboside) in plasma using a diazotization coupling technique with N-(1-naphthyl)ethylenediamineJ Biochem Biophys Methods292143-1481994
Porrmann J,et al.Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomaliesAm J Med Genet A173102736-27422017
Castro M,et al.Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patientsNeuropediatrics334186-1892002
Rannou F,et al.Effects of AMPD1 common mutation on the metabolic-chronotropic relationship: Insights from patients with myoadenylate deaminase deficiencyPLoS One1211e01872662017
Fujitaki JM,et al.Spectrophotometric determination of acadesine (AICA-riboside) in plasma using a diazotization coupling technique with N-(1-naphthyl)ethylenediamineJ Biochem Biophys Methods292143-1481994
Teijeira S,et al.Myoadenylate deaminase deficiency: clinico-pathological and molecular study of a series of 27 Spanish casesClin Neuropathol282136-1422009
Mayr SJ,et al.A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturationJ Inherit Metab Dis412187-1962018
Castro M,et al.Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patientsNeuropediatrics334186-1892002