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Summary
FEEDING: (TOTAL) PARENTERAL NUTRITION, PN, TPN 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 during PN/TPN:
- excessive intake of branched chain aminoacids
- sufficient quantities of arginine
- short bowel syndrome
- small bowel resection
symptoms
encephalopathy
hyperammonemia
onset, variable age
laboratory finding
Ammonia +€mol/lblood
Arginine decreasedplasma
Literature
Zar-Kessler C,et al.Understanding the gastrointestinal manifestations of Fabry disease: promoting prompt diagnosisTherap Adv Gastroenterol94626-6342016
Tadevosyan AFabry disease: A fundamental genetic modifier of cardiac functionCurr Res Transl Med65110-142017
Schiffmann R,et al.Is it Fabry disease?Genet Med18121181-11852016
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
Burnett JR,Hooper AJ, Hegele RAFamilial Lipoprotein Lipase DeficiencyGeneReviews-« InternetGeneReviews-« Internet002017
Dionisi-Vici C,et al.Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal diseaseBrain13941045-10512016
Citro V,et al.The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense MutationsInt J Mol Sci170122016
El Dib R,et al.Enzyme replacement therapy for Anderson-Fabry diseaseCochrane Database Syst Rev7002016
K-¦l-¦c M,et al.Successful treatment of a patient with ethylmalonic encephalopathy by intravenous N-acetylcysteineMetab Brain Dis323293-2962017
Schiffmann R,Ries MFabry Disease: A Disorder of Childhood OnsetPediatr Neurol64010-202016
Bokhari SR,Al Aboud AFabry DiseaseStatPearls Internet002017
Ranieri M,et al.Fabry Disease: Recognition, Diagnosis, and Treatment of Neurological FeaturesCurr Treat Options Neurol187332016