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Summary
ARTERIAL TORTUOSITY SYNDROME ATS
ARTERIAL TORTUOSITY
208050
OMIM = Online Medalian Inheritance of Men
3342
20q13.12
rare
autosomal recessive
loss-of-function mutations in the SLC2A10 gene encoding GLUT10
symptoms
aneurysms of arteries
aortic stenosis
arachnodyctyly
arterial tortuosity
corneal deposits
heart involvement
hernia
high arched palate
hypertelorism
hypotonia
joint hypermobilty, dislocations
long, broad, prominent philtrum
mental retardation
myopia
onset, neonatal
skeletal changes, skeletal abnormalities
skin hyperelasticity
small chin or micrognathia
strokelike episodes
thrombosis
laboratory finding
no specific laboratory findings
Literature
Meyburg J,et al.Postnatal changes in neonatal acylcarnitine profilePediatr Res491125-1292001
Olpin SE,et al.Fibroblast Fatty-Acid Oxidation Flux Assays Stratify Risk in Newborns with Presumptive-Positive Results on Screening for Very-Long Chain Acyl-CoA Dehydrogenase DeficiencyInt J Neonatal Screen322017
Solberg R,et al.Metabolomic analyses of plasma reveals new insights into asphyxia and resuscitation in pigsPLoS One53e96062010
Merritt JL 2nd,et al.Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screeningMol Genet Metab1114484-4922014
Burrage LC,et al.Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic DilemmaJ Pediatr1690208-2132016
Brucknerova Iet al.Reversible asphyxial status in a newborn due to neonatal form of carnitine palmitoyltransferase II deficiencyNeuro Endocrinol Lett295627-6302008
Allen C,Perkins R1, Schwahn BA retrospective review of anesthesia and perioperative care in children with medium-chain acyl-CoA dehydrogenase deficiencyPaediatr Anaesth27160-652017