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Fabry disease (NORD)





Population genetics
Genetic disorders
Down syndrome (Trisomy 21)
Edwards syndrome (Trisomy 18)
Patau syndrome (Trisomy 13)
Fragile X syndrome
Huntington disease
Myotonic dystrophy
Friedreich ataxia
Turner syndrome
Klinefelter syndrome
Prader-Willi syndrome
Angelman syndrome
Beckwith-Wiedemann syndrome
Cri du chat syndrome
Williams syndrome
Alagille syndrome (NORD)
Polycystic kidney disease
Familial adenomatous polyposis
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Li-Fraumeni syndrome
Marfan syndrome
Multiple endocrine neoplasia
Myotonic dystrophy
Tuberous sclerosis
von Hippel-Lindau disease
Polycystic kidney disease
Cystic fibrosis
Friedreich ataxia
Gaucher disease (NORD)
Glycogen storage disease type I
Glycogen storage disease type II (NORD)
Glycogen storage disease type III
Glycogen storage disease type IV
Glycogen storage disease type V
Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)
Krabbe disease
Niemann-Pick disease types A and B (NORD)
Niemann-Pick disease type C
Primary ciliary dyskinesia
Phenylketonuria (NORD)
Sickle cell disease (NORD)
Tay-Sachs disease (NORD)
Wilson disease
Fragile X syndrome
Alport syndrome
X-linked agammaglobulinemia
Fabry disease (NORD)
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
Lesch-Nyhan syndrome
Muscular dystrophy
Ornithine transcarbamylase deficiency
Wiskott-Aldrich syndrome
Mitochondrial myopathy
Autosomal trisomies: Pathology review
Muscular dystrophies and mitochondrial myopathies: Pathology review
Miscellaneous genetic disorders: Pathology review

Fabry disease (NORD)


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High Yield Notes
6 pages

Fabry disease (NORD)

10 flashcards

USMLE® Step 1 style questions USMLE

3 questions

USMLE® Step 2 style questions USMLE

1 questions

A 15-year-old boy is brought to the dermatologist by his mother due to non-blanching red and purple raised spots with a rough surface on his hands, knees, chest, and genitals. The boy consistently complains of pain and burning in his hands and feet, especially in the summer. Furthermore, he has had paroxysmal episodes of severe abdominal pain beginning at age 12, the cause of which has not yet been determined. Based on the patient's history and physical presentation, which enzyme is most likely deficient in this patient?

External References

Fabry disease is a rare X-linked condition caused by mutations or pathogenic variants in the GLA gene that codes for a lysosomal enzyme called alpha galactosidase A or alpha-gal A.

The alpha-gal enzyme normally breaks down large molecules called globotriaosylceramide or GL3 and other glycosphingolipids, so that small parts of the big molecules can be recycled for the body to use again.

Without alpha-gal, these GL3 molecules build up inside the lysosomes, the recycling centers of the cells, causing a variety of symptoms and health issues.

Fabry disease affects males and females, and it has two forms: classic and nonclassic/later onset. In classic

Fabry disease, symptoms start in childhood and include burning, tingling, prickling, and painful neuropathic pain in the hands and feet, frequently triggered by exercise, fatigue, stress, or illness.

There may also be a gradual decrease of sweating in childhood until many teens and adults stop sweating entirely.

In some people living with Fabry disease, small reddish-purple rashes called angiokeratomas appear around the lower abdomen and “bathing trunk” region of the body.

There may also be gastrointestinal symptoms like cramps, frequent bowel movements, constipation, and diarrhea.

Many patients have a whorl or verticillata in their cornea, that can be found during a split lamp eye exam - but it doesn’t typically affect vision.

Without treatment, Fabry disease complications can include kidney disease, abnormal heart rhythms, heart enlargement, and an increased stroke risk.

Nonclassic or later-onset Fabry disease doesn’t cause the earlier symptoms of pain and gastrointestinal issues in childhood, but some adults develop multiple symptoms as young adults.

Others may only show signs of Fabry disease in a specific organ - like the heart or the kidneys. However, these individuals also have a higher risk of Fabry-associated complications.

Fabry disease is a rare genetic lysosomal storage disease of X-linked recessive inheritance. Fabry disease can cause a wide range of systemic symptoms, most commonly peripheral neuropathy, angiokeratomas, and hypohidrosis. Later complications include renal failure and cardiovascular disease. Fabry disease typically appears in early childhood, and is caused by a deficiency of alpha-galactosidase-A enzyme, resulting in accumulation of ceramide trihexoside.