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Summary
SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE (SESAMES)
SESAME SYNDROME
612780
OMIM = Online Medalian Inheritance of Men
199343
1q23.2
rare
autosomal recessive
mutation in the KCNJ10 gene (14 different mutations until 2016)
symptoms
ataxia
cerebellar atrophy or hypoplasia
defect of walking, running, rising or climbing
developmental delay
enuresis nocturna
epilepsy
feeding difficulties, poor feeding
hearing defect, deafness
hypotonia
intellectual disability/intellectual developmental disorder (ID/ IDD)
irritability
mental retardation
metabolic alkalosis
myelination, incomplete, hypomyelination
onset, infancy
polydipsia (increased drinking)
polyuria
psychomotor retardation
seizures
short stature
speech development, delayed, abnormal
tremor or twitching
tubulopathy
laboratory finding
Potassium decreasedplasma
Magnesium decreasedplasma
Potassium increasedurine
Literature
Kurozumi Y,et al.Experimental beta-alaninuria induced by (aminooxy)acetateActa Med Okayama53113-181999
Liss DB,et al.What is the clinical significance of 5-oxoproline (pyroglutamic acid) in high anion gap metabolic acidosis following paracetamol (acetaminophen) exposure?Clin Toxicol (Phila)519817-8272013
Filosto M,et al.Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome in adulthood: a rare recognizable conditionNeurol Sci3491699-17012013
Abkur TM,et al.Acetaminophen-induced anion gap metabolic acidosis secondary to 5-oxoproline: a case reportJ Med Case Rep804092014
Lee HH,et al.Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome: a treatable genetic liver disease warranting urgent diagnosisHong Kong Med J20163-662014
Lanoy C,Bouckaert YMetabolic acidosis and 5-oxoprolinuria induced by flucloxacillin and acetaminophen: a case reportJ Med Case Rep1011842016
Shetewy A,et al.Mitochondrial defects associated with beta-alanine toxicity: relevance to hyper-beta-alaninemiaMol Cell Biochem416111-222016
Walker V,et al.The acetaminophen metabolite N-acetyl-p-benzoquinone imine (NAPQI) inhibits glutathione synthetase in vitro a clue to the mechanism of 5-oxoprolinuric acidosis?Xenobiotica472164-1752016
Weiler S,Bellmann R, Kullak-Ublick GA5-0xoproline (pyroglutamic acid) acidosis and acetaminophen- a differential diagnosis in high anion gap metabolic acidosisTher Umsch7211737-7412015