Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0002986 (
Fabry
)
5,646
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Fabry disease
is an X-linked lysosomal disease caused by mutations of the alpha-galactosidase A (GLA) gene at chromosome subband Xq22.1. To date, more than 600 genetic mutations have been identified to determine the nature and frequency of the molecular lesions causing the classical and milder variant phenotypes and for precise carrier detection. We report here a
Fabry
family (mother, son and daughter) where the alpha-galactosidase A defect was associated with a
glucose-6-phosphate dehydrogenase
(
G6PD
) deficiency. Mutation analysis revealed for the GLA gene the presence of a new mutation, i.e., a small deletion (c.452delA) on exon 3 and for the
G6PD
gene the presence of 2 mutations, p.V68M (
G6PD
Asahi,
G6PD
A+) and p.N126D (
G6PD
A+) on exon 3 and exon 4, respectively.
...
PMID:A novel GLA mutation in a Fabry family with glucose-6-phosphate dehydrogenase deficiency. 2230 42
