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Reduced leukocyte alpha-L-fucosidase activity

MedGen UID:: 1841703
•Concept ID:: C5826715
•: Finding

HPO:	HP:0034860

Definition

Concentration or activity of an alpha-L-fucosidase as measured in leukocytes is below the limits of normal. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVReduced leukocyte alpha-L-fucosidase activity

Phenotypic abnormality
- Abnormality of metabolism/homeostasis
  - Abnormal enzyme concentration or activity
    - Abnormal leukocyte enzyme concentration or activity
      - Reduced leukocyte alpha-L-fucosidase activity

Recent clinical studies

Diagnosis

Heterozygote detection in Fabry disease utilizing multiple enzyme activities.

Sheth KJ, Good TA, Murphy JV
Am J Med Genet 1981;10(2):141-6. doi: 10.1002/ajmg.1320100207. PMID: 6274191

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Reduced leukocyte alpha-L-fucosidase activity
Reduced leukocyte alpha-L-fucosidase activity

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