Fabry disease alpha-galactosidase A deficiency

Alpha-galactosidase, please note this test cannot be done at the decentralized lancing stations, you must go directly to the lab for this.

In the comments during your order, please state "Informed consent: I am aware that an incriminating result is a possibility."

When will this research be done?

When Fabry syndrome or sphingolipid storage disease is suspected

Sphingolipid storage disease is a group of rare congenital metabolic diseases caused by a lack of an enzyme needed to break down sphingolipids. Sphingolipids are a type of fat found in all body cells. They play a role in a wide range of functions, including cell structure, signal transmission and cell adhesion.

In sphingolipid storage disease, excess sphingolipids accumulate in the body. This can lead to several health problems, including:

• Neurological problems, such as brain damage, cognitive decline and paralysis
• Heart problems, such as heart failure and arrhythmias
• Liver problems, such as liver enlargement and liver failure
• Kidney problems, such as renal insufficiency
• Skin problems, such as rashes and ulcers
• Eye problems, such as cataracts and glaucoma

Sphingolipidoses are generally inherited in an autosomal recessive manner. This means that a child can only have the disease if the child has received the affected gene from both parents.

Fabry disease: a disease caused by a deficiency of alpha-galactosidase A, an enzyme needed to break down ceramide trihexoside. Fabry disease primarily affects men, but can also occur in women.

Review

Alpha galactosidase deficiency in Fabry syndrome (sex-linked recessive disorder)
Explanation

Alpha-galactosidase is an enzyme needed to break down a certain substance in the body, ceramide trihexoside. When alpha-galactosidase is deficient, as in Fabry disease, this substance accumulates in the body, which can lead to various health problems, including sore feet, skin problems, eye problems and heart problems.

A blood test for alpha-galactosidase is usually performed in men with symptoms that may indicate Fabry disease. The test can also be performed in women with symptoms, but in women, normal alpha-galactosidase activity is not conclusive for Fabry disease. In that case, additional genetic testing is needed.

Normal values for alpha-galactosidase in the blood are:

Men: > 1.0 µmol/L/h
Women: > 0.5 µmol/L/h
Lowered values may indicate Fabry disease, but may also be caused by other conditions, such as liver disease, kidney disease or certain medications.

In addition to Fabry disease, a blood test for alpha-galactosidase can also be used to diagnose other conditions, such as:

• Fabry-like disease
• Pompe disease
• Mannose-6-fosfaat-isomerase-deficiëntie

These disorders are all characterized by a lack of an enzyme needed to break down a particular substance in the body.

this test is also known by the names:

Alpha-galactosidase A: alpha-galactosidase A
α-galactosidase A: alpha-galactosidase A
α-gal A: alpha-galactosidase A
α-GAL A: alpha-galactosidase A

In addition to Fabry disease, an AGALAC blood test can also be used to diagnose other conditions, such as:

• Fabry-like disease
• Pompe disease
• Mannose-6-fosfaat-isomerase-deficiëntie

Reference values: the result is good if it is between 3.4 - 13.0 nmol/h/ml

Measurement method: photometry (PHOT)