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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
cardiac arrhythmia, dysrhythmia
cardiomyopathy
cardiomyopathy, hypertrophic
cerebral vascular disease
corneal clouding
corneal deposits
coronary heart disease
diarrhea
fever
hearing defect, deafness
hyperhidrosis
hypertension
hypohidrosis
myocardial infarction
nausea
onset, childhood
pain, abdominal
pain, extremities (acroparesthesia)
paresthesia
proteinuria
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
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Levesque S,et al.A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian populationBMC Med Genet131722012
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Steen Cet al.Cobalamin E (cblE) disease a severe neurological disorder with megaloblastic anaemia, homocystinuria and low serum methionineJ Inherit Metab Dis200705-7061997
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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
Andresen BS,et al.MCAD deficiency in DenmarkMol Genet Metab1062175-1882012
Clayton BEJenkins P, Round JMPaediatric chemical pathology - clinical tests and reference rangesBlackwell, Oxford001980
Mohebbi MR,et al.Zellweger Syndrome and Associated Brain Malformations: Report of a Novel Peroxin1(PEX1) Mutation in a Native American InfantJ Child Neurol002012
Ezgu FET AL:An infantile case of Zellweger syndrome presented with Kabuki-like phenotypeGenet Couns222217-2202011
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
Waterham HR,Ebberink MSGenetics and molecular basis of human peroxisome biogenesis disordersBiochim Biophys Acta182291430-14412012
Feillet F,et al.Medium-chain acyl-CoA-dehydrogenase (MCAD) deficiency: French consensus for neonatal screening, diagnosis, and managementArch Pediatr192184-1932012