TY - CHAP M1 - Book, Section TI - Chapter 48. Fabry Disease A1 - Desnick, Robert J. A2 - Lerma, Edgar V. A2 - Berns, Jeffrey S. A2 - Nissenson, Allen R. PY - 2009 T2 - CURRENT Diagnosis & Treatment: Nephrology & Hypertension 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. SN - PB - The McGraw-Hill Companies CY - New York, NY Y2 - 2024/03/28 UR - accessmedicine.mhmedical.com/content.aspx?aid=6339761 ER -