Classifications of fabry disease as an inherited disorder

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Classifications of fabry disease as an inherited disorder

This disorder belongs to a group of diseases known as lysosomal storage disorders. This enzymatic deficiency is caused by mutations or alterations in the a-Gal A gene abbreviated as GLA that instructs cells to make the a-Gal A enzyme.

Lysosomes function as the primary digestive units within cells. Enzymes within lysosomes break down or digest particular compounds and intracellular structures.

Males are typically more severely affected than females. Females have a more variable course and may be asymptomatic or as severely affected as males see Genetics section below.

Classifications of fabry disease as an inherited disorder

There are two major disease phenotypes: These include the acroparesthesia excruciating pain in the hands and feet which occur with exercise, fevers, stress, etc. Prior to renal replacement therapy i. They experience an essentially normal childhood and adolescence.

Most type 2 later-onset patients have been identified by enzyme screening of patients in cardiac, hemodialysis, renal transplant, and stroke clinics e.

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Based on these screening studies e. Clinical manifestations in heterozygous females from families with the type 1 classic phenotype are variable due to random X-chromosomal inactivation Dobrovolny and range from asymptomatic to as severe as type 1 classic males Desnick,Germain Type 2 heterozygotes may be asymptomatic or develop renal or cardiac manifestations later in life.

However, the frequency of manifestations in type 2 heterozygotes has not been systematically investigated to date. Early and progressive clinical symptoms include: Pain is an early symptom of the Classic subtype and may occur as early as years old in males and during childhood or adolescence in female heterozygotes.

Affected individuals may experience episodes of severe burning pain in the hands and the feet acroparesthesia.

Type 1 males and some type 1 females have decreased or absent sweat production hypohidrosis or anhidrosis and discomfort heat intolerance in warm temperatures, with exercise, or fevers. Early symptoms also include the appearance of a reddish to dark-blue skin rash, especially in the area between the hips and the knees.

These skin lesions may be flat or raised.

Classifications of fabry disease as an inherited disorder

They often are found in the umbilical area or genitals of type 1 males. Typically, males and females with the type 2 later-onset phenotype do not have these characteristic skin lesions. Abdominal cramping, frequent bowel movements, and diarrhea may also occur, particularly after a large meal.

Patients with the type 1 Classic subtype have abnormal deposits of glycolipids in their corneas resulting in a characteristic change which can be seen by an experienced ophthalmologist.All studies used to form a recommendation for care are graded for strength of evidence individually, and that grade is listed with the study citation.

Fabry Disease: Causes, Symptoms, and Treatment

To rate individual studies, a scale based on SIGN 1 is used. The definitions and levels of evidence to rate individual studies are as follows: High. Professor Aung is a clinician scientist, with clinical practice focusing on glaucoma and research interests in angle closure glaucoma and glaucoma genetics.

Fabry disease is an X-linked inherited metabolic disorder that is caused by a deficiency of α-galactosidase A (α-Gal A). Progressive deposition of neutral glycosphingolipids that have terminal α-linked galactosyl moieties in vascular endothelial cells causes renal failure along with premature myocardial infarctions and strokes in patients.


List of disease causes of Skin symptoms, patient stories, diagnostic guides. Diagnostic checklist, medical tests, doctor questions, and related signs or symptoms for Skin symptoms.

A genetic disorder, Fabry disease is passed from parent to child. In very rare cases, however, it can result from a “de novo” mutation appearing for a first time in a child. How Fabry disease is inherited. Neuronal ceroid lipofuscinosis (NCL) is the general name for a family of at least eight genetically separate neurodegenerative disorders that result from excessive accumulation of lipopigments in the body's tissues.

These lipopigments are made up of fats and name comes from the word stem lipo-, which is a variation on "lipid" or "fat", and from the term pigment, used because the.

Neuronal ceroid lipofuscinosis - Wikipedia