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Summary
FABRY DISEASE
ANDERSON-FABRY DISEASE
301500
OMIM = Online Medalian Inheritance of Men
324
Xq22.1
  • carbamazepin
  • diphenylhydantoin
  • enzyme replacement therapy
  • kidney transplantation
  • morphine
rare (1:40.000)
X-linked recessive
symptoms
anemia
angiokeratoma
cardiomyopathy
cerebral vascular disease
corneal clouding
corneal deposits
coronary heart disease
diarrhea
fever
hearing defect, deafness
hyperhidrosis
hypertension
hypohidrosis
myocardial infarction
nausea
onset, child
pain, abdominal
paresthesia
renal failure, acute/chronic
strokelike episodes
vertigo, dizziness
vomiting
laboratory finding
alpha-Galactosidase A 100.00decreased activitytears
alpha-Galactosidase A 100.00decreased activityleucocytes
Globotriaosylceramide 0.000.00increasedurine
Globotriaosylceramide increasedplasma
alpha-Galactosidase A 100.00decreased activityplasma
ECG abnormalities -
Protein 50.0080.00increasedurine
Literature
Lee HJet al.Mitogen-activated protein kinase/extracellular signal-regulated kinase attenuates 3-hydroxykynurenine-induced neuronal cell deathJ Neurochem883647-6562004
Clayton BEJenkins P, Round JMPaediatric chemical pathology - clinical tests and reference rangesBlackwell, Oxford001980
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Ruetschi Uet al.Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type IIIHum Genet1066654-6622000
Odaib AAet al.A defect in the transport of long-chain fatty acids associated with acute liver failureN Engl J MedN Engl J Med 1998 Dec 10339(24):1752-733901752-17571998
Brunzell JDFamilial lipoprotein lipase deficiency and other causes of the chylomicronemia syndromeThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.201913-19321995
Aiuti Aet al.Gene therapy for adenosine deaminase deficiencyCurr Opin Allergy Clin Immunol36461-4662003
Rinaldo PMatern DDisorders of fatty acid transport and mitochondrial oxidation: challenges and dilemmas of metabolic evaluationGenet Med 2000 Nov-Dec2(6):338-4420338-3442000
Gordon NAlexander diseaseEur J Paediatr Neurol76395-3992003
Steen Cet al.Cobalamin E (cblE) disease a severe neurological disorder with megaloblastic anaemia, homocystinuria and low serum methionineJ Inherit Metab Dis200705-7061997
Clayton BEJenkins P, Round JMPaediatric chemical pathology - clinical tests and reference rangesBlackwell, Oxford001980
Johnson ABBrenner MAlexanders disease: clinical, pathologic, and genetic featuresJ Child Neurol189625-6322003
Clayton BEJenkins P, Round JMPaediatric chemical pathology - clinical tests and reference rangesBlackwell, Oxford001980
Toth Ket al.Ochronotic arthropathyScand J Rheumatol325315-3172003
Young SPet al.A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiencyClin Chim Acta3370103-1132003