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Summary
FEEDING: SHORT BOWEL SYNDROME DD
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OMIM = Online Medalian Inheritance of Men

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
risk factors probably accounted for hyperammonemia after short bowel resection and/or during PN/TPN:
- short bowel syndrome
- small bowel resection
- excessive intake of branched chain aminoacids
- sufficient quantities of arginine
symptoms
encephalopathy
hyperammonemia
laboratory finding
Literature
Zar-Kessler C,et al.Understanding the gastrointestinal manifestations of Fabry disease: promoting prompt diagnosisTherap Adv Gastroenterol94626-6342016
Mehta A,Hughes DAFabry DiseaseGeneReviews-« InternetGeneReviews-« Internet002017
Steinhagen-Thiessen E,et al.The role of registries in rare genetic lipid disorders: Review and introduction of the first global registry in lipoprotein lipase deficiencyAtherosclerosis2620146-1532017
M+©ller LBSmall amounts of functional ATP7A protein permit mild phenotypeJ Trace Elem Med Biol310173-1772015
Lane AM,McKay JT, Bonkovsky HLAdvances in the management of erythropoietic protoporphyria - role of afamelanotideAppl Clin Genet90179-1892016
Cardoso GMF,et al.Bioenergetics dysfunction, mitochondrial permeability transition pore opening and lipid peroxidation induced by hydrogen sulfide as relevant pathomechanisms underlying the neurological dysfunction characteristic of ethylmalonic encephalopathyBiochim Biophys Acta186392192-22012017
Kodama H,Fujisawa C, Bhadhprasit WInherited copper transport disorders: biochemical mechanisms, diagnosis, and treatmentCurr Drug Metab133337-2502012
Burnett JR,Hooper AJ, Hegele RAFamilial Lipoprotein Lipase DeficiencyGeneReviews-« InternetGeneReviews-« Internet002017
M+©ller LBSmall amounts of functional ATP7A protein permit mild phenotypeJ Trace Elem Med Biol310173-1772015
Balwani M,et al.Erythropoietic Protoporphyria, Autosomal RecessiveGeneReviews-« InternetGeneReviews-« Internet002017
Kim ES,Garnock-Jones KPAfamelanotide: A Review in Erythropoietic ProtoporphyriaAm J Clin Dermatol. 2016 Apr17(2):179-85172179-1852016
Ranieri M,et al.Fabry Disease: Recognition, Diagnosis, and Treatment of Neurological FeaturesCurr Treat Options Neurol187332016
Oder D,et al.The Fabrys Disease Cardiomyopathy as Differential Diagnosis of Acute Coronary SyndromeDtsch Med Wochenschr1426442-4492017