Fabry disease (NORD)
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Fabry disease (NORD)
Genetics
Genetic disorders
Achondroplasia
Alagille syndrome (NORD)
Familial adenomatous polyposis
Familial hypercholesterolemia
Hereditary spherocytosis
Huntington disease
Li-Fraumeni syndrome
Marfan syndrome
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Myotonic dystrophy
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Treacher Collins syndrome
Tuberous sclerosis
von Hippel-Lindau disease
Albinism
Alpha-thalassemia
Beta-thalassemia
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
Hemochromatosis
Krabbe disease
Leukodystrophy
Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)
Niemann-Pick disease type C
Niemann-Pick disease types A and B (NORD)
Phenylketonuria (NORD)
Polycystic kidney disease
Primary ciliary dyskinesia
Sickle cell disease (NORD)
Tay-Sachs disease (NORD)
Wilson disease
Cri du chat syndrome
Williams syndrome
Angelman syndrome
Prader-Willi syndrome
Beckwith-Wiedemann syndrome
Mitochondrial myopathy
Klinefelter syndrome
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Huntington disease
Myotonic dystrophy
Down syndrome (Trisomy 21)
Edwards syndrome (Trisomy 18)
Patau syndrome (Trisomy 13)
Alport syndrome
Fragile X syndrome
Fabry disease (NORD)
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Hemophilia
Lesch-Nyhan syndrome
Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
Muscular dystrophy
Ornithine transcarbamylase deficiency
Wiskott-Aldrich syndrome
X-linked agammaglobulinemia
Autosomal trisomies: Pathology review
Miscellaneous genetic disorders: Pathology review
Muscular dystrophies and mitochondrial myopathies: Pathology review
Assessments
Fabry disease (NORD)
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Fabry disease (NORD)
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Reproduced from Wikipedia
Neurological examination reveals symmetric peripheral neuropathy with diminished sensation to touch and temperature. Abdominal examination is unremarkable. Complete blood count is normal. A genetic disorder is suspected. If further testing is performed, which of the following enzymes is most likely to be deficient in this patient?
External References
First Aid
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α-galactosidase A
Fabry disease p. 86
Fabry disease p. 58, 86
Heart disease
Fabry disease p. 86
Peripheral neuropathy
Fabry disease p. 86
Renal failure
Fabry disease p. 86
Transcript
Content Reviewers
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.
Summary
Fabry disease is a rare, x-linked lysosomal storage disorder in which an enzyme called alpha-galactosidase A is deficient. This results in the accumulation of ceramide trihexoside in the cells, which causes health problems. People with Fabry disease present with burning pain in the hands and feet, and reduced sweating, and angiokeratomas which appear as hard bumps on the skin. People can also develop heart problems, stroke, and kidney failure.
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