What is the inheritance pattern of fabry disease?

X linked recessive. Fabry disease is an x-linked recessive lysosomal storage disease.
Fairy inheritance. The inheritance is x-linked recessive. This means it is transmitted from carrier moms to male offspring who express the disease.

Related Questions

What is fabry disease?

A genetic disorder. Fairy is an x- linked metabolic disorder due to a deficiency of an enzyme (galactosidase a). So a compound of suger and fatty acid which is usually breaks down by the enzyme in normal people will accumulate in blood vessels and organs of the affected person and cause symptom off pain, fatigue, dark red skin rash (angiokeratomas) and it slowly progresses to kidney, heart and neurological problem.

What is fabry disease like?

Can be treated. Enzyme replacement therapy holds promise and has been fda approved. Symptoms begin during childhood and include burning sensations in the hands that gets worse with exercise and hot weather and small raised reddish-purple blemishes on the skin. Eye signs include cloudy cornea. Lipid storage may lead to poor circulation, increased risk of heart attack, stroke, kidney disease.

Fabry disease, what is this?

Fabry's disease. Fabry's disease results from abnormal deposits of a particular fatty substance (called globotriaosylcera-mide) in blood vessel walls throughout the body. The primary defect which allows this to occur is the inherited deficiency of the enzyme, Alpha galactosidase A, this is normally responsible for the breakdown of globotriaosylceramide. For more info see: http://www. Fabry. Org/fsig. Nsf/pages/fabry.

Is there a cure fabry disease?

Not yet. Hang in there, recent research suggests some amazing breakthroughs are on the way. Google the disease and contact the major research centers.

What is "anderson-fabry" disease?

Same as Fabry. Still an inborn error of metabolism http://www. Ninds. Nih. Gov/disorders/fabrys/fabrys. Htm.

Does fabry disease affect only males?

Fabry disease. Fabry disease is a hereditary disease and transmitted as x-linked recessive, meaning that the carrier mother transmits the disease to 50% of her sons, in some cases females can be affected by inactivation of the other x chromosome in female patient who usually has xx, in that cases the disease may be mild comparing to severe one in the male patient.
Not always. The mutation is carried on the x-chromosone. Men have one y and one x chromosome, therefore they tend to express the gene product. Women have two x chromosomes, so it depends on which x chromosome becomes more active. In some unlucky women, they can express the full blown symptoms of fabry's disease. There are also some special cases of xy women out there, they would be likely to have symptoms.

What are the tests for fabry disease?

Blood test. If the disease is suspected then the genetic tests can be done to look for the x linked galactosidase a enzyme deficiency.

What are the symptoms of fabry disease?

Fabry disease. This is a rare form of sphingolipidosis (dysfunctional metabolism of sphingolipids) due to deficiency of Alpha galactosidase enzyme a, leading to accumulation of the lipid in different organs. It presents as pain, kidney failure, hypertension, cardiomyopathy, neuropathy, fatigue, skin & eye lesions. Life expectancy is 40-60 years.
Fabry disease. This is a rare form of sphingolipidosis (dysfunctional metabolism of sphingolipids) due to deficiency of Alpha galactosidase enzyme a, leading to accumulation of the lipid in different organs. It presents as pain, kidney failure, hypertension, cardiomyopathy, neuropathy, fatigue, skin & eye lesions. Life expectancy is 40-60 years.

What sort of disorder is fabry disease?

Fabry disease. Symptoms usually begin during childhood or adolescence and include burning sensations in the hands that gets worse with exercise and hot weather and small, non-cancerous, raised reddish-purple blemishes on the skin. Lipid storage may lead to impaired arterial circulation and increased risk of heart attack or stroke. More at: http://www. Ninds. Nih. Gov/disorders/fabrys/fabrys. Htm.