SCIENTIFIC BACKGROUND

GLA

SCIENTIFIC BACKGROUND

Fabry disease is a lysosomal storage disease and a congenital, X-linked disorder of the glycosphingolipid catabolism caused by a reduced or absent activity of the lysosomal enzyme alpha-galactosidase A (GLA). Pathogenic variants in the GLA gene are causative. The enzyme deficiency leads to a progressive systemic accumulation of glycosphingolipids in various tissues and organs. To avoid serious complications, an early diagnosis is crucial to initiate therapy. Symptoms of Fabry disease include angiokeratomas, pain attacks, dysfunction of various organs, which may lead to stroke, myocardial infarction and dialysis requirement in the later course of the disease. Time of initial manifestation and course of the disease are highly variable, with symptoms commonly occurring in childhood.

 

The prevalence of classic Fabry disease in men is estimated at approximately 1:40,000. Unlike the majority of other X-linked disorders, heterozygous females are rarely asymptomatic and may develop symptoms requiring treatment or even present the complete disease. One hypothesis for phenotypic variability in heterozygous women is shifted X inactivation.

 

Enzyme substitution therapy has been available in Europe since 2001. Since 2016, there has been the alternative option of oral chaperone therapy with the active ingredient migalastat for patients over the age of 16 with confirmed Fabry disease. Since the therapy is only effective in the presence of certain variants in the GLA gene, the patient's GLA genotype must be known. A list of the individual variants can be found in the Galafold technical information.

 

References

Mehta and Hughes, 2002 Aug 5 [Updated 2017 Jan 5]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. / Schäfer et al. 2005, Hum Mutat. 25:412 / Eng et al. 1993, Am J Hum Gen 53:1186 / Fachinformation Galafold

GENES

GLA

ASSOCIATED TESTS

How to order

LATEST ARTICLES

Exciting news in genetic research! The Human Pangenome Reference Consortium has unveiled an improved version of the human pangenome reference. This c...

Read more

Duchenne muscular dystrophy, a rare inherited muscle disorder characterized by progressive muscle weakness and degeneration that leads to difficultie...

Read more

May 12 is International Nurses Day. It is celebrated on Florence Nightingale’s birthday. She pioneered the field of modern nursing through her dedi...

Read more

Hair loss is a common problem that affects millions of men and women around the world. While genetics is believed to be the most significant factor c...

Read more

Depression is a serious mental health issue affecting over 280 million people worldwide. Recent research has revealed a potential link between gut he...

Read more

If you are unlucky enough to suffer from migraines, you will know that a migraine is not just a bad headache. The headache and accompanying symptoms ...

Read more

Autism spectrum disorder (ASD) is a neurological developmental disorder that affects brain development and function. This affects how people learn, b...

Read more

Researchers have developed a method called "Mendelian Phenotype Search Engine" (MPSE) to identify which sick infants in the neonatal intensive care u...

Read more

Did you know that wisdom teeth are actually an evolutionary leftover from our ancient ancestors that no longer serve their original purpose? These mo...

Read more

Azoospermia is a medical condition characterized by the absence of sperm in the ejaculate and is a major cause of male infertility. It affects 1 in 1...

Read more