RT Book, Section
A1 Desnick, Robert J.
A2 Lerma, Edgar V.
A2 Berns, Jeffrey S.
A2 Nissenson, Allen R.
SR Print(0)
ID 6339761
T1 Chapter 48. Fabry Disease
T2 CURRENT Diagnosis & Treatment: Nephrology & Hypertension
YR 2009
FD 2009
PB The McGraw-Hill Companies
PP New York, NY
SN 978-0-07-144787-4
LK accessmedicine.mhmedical.com/content.aspx?aid=6339761
RD 2023/03/30
AB X-linked  recessive  lysosomal  storage  disease.Males.  –Deficient  plasma  and/or  leukocyte  α-galactosidase  A  (in  classic  phenotype  1%  of  normal  mean  activity).–Certain  α-galactosidase  A  gene  mutations  provide  genotype/phenotype  correlations.–Accumulation  of  globotriaosylceramide  (GL-3).–Presence  of  angiokeratomas,  acroparesthesias,  hypohidrosis,  corneal  and  lenticular  changes,  renal  failure,  cardiac  disease,  and  cerbrovascular  disease.Females.  –Due  to  random  X-chromosome  inactivation,  commonly  females  may  have  plasma  and  leukocyte  α-galactosidase  A  activity  varying  from  severely  deficient  to  normal.–α-Galactosidase  A  mutation  analysis  required  for  definitive  diagnosis.–Females  vary  in  clinical  symptoms  from  asymptomatic  to  as  severe  as  classically  affected  males.  Symptoms  may  appear  at  later  ages  than  in  affected  males.