Lysosomal Storage Diseases | Overview and What You Need to Know

The video provides an overview of lysosomal storage diseases, which are caused by enzyme and transporter deficiencies in the lysosome. It covers specific diseases like cystinosis, Fabry, Gaucher's, Hunter's, Hurler's, Sanfilippo, Krabbe, Niemann-Pick, and Tay-Sachs, explaining their genetic basis, symptoms, and mnemonic aids for remembering key details.

What is the primary cause of lysosomal storage diseases?

• Overactive lysosomal transporters

• Deficiencies in lysosomal enzymes or transporters

• Excessive production of lysosomal enzymes

• Increased lysosomal membrane permeability

Cystinosis is primarily caused by a defect in which type of protein?

• Lysosomal enzyme

• Lysosomal transporter

• Cell membrane receptor

• Nuclear protein

Fabry disease is most prevalent in which inheritance pattern?

• X-linked dominant

• X-linked recessive

• Autosomal recessive

• Autosomal dominant

What is a common physical finding in Gaucher's disease?

• Hepatosplenomegaly

• Osteonecrosis of the femoral head

• Neuropathic pain

• Corneal clouding

Hunter's disease is characterized by the absence of which symptom?

• Angiokeratomas

• Corneal clouding

• Hepatosplenomegaly

• Neuropathic pain

Hurler's disease leads to the accumulation of which substances?

• Heparan sulfate and dermatan sulfate

• Ceramide trihexoside

• GM2 ganglioside

• Sphingomyelin

Sanfilippo syndrome is primarily associated with which type of degeneration?

• Hepatic degeneration

• CNS degeneration

• Muscular degeneration

• Renal degeneration

Krabbe disease is also known by which other name?

• Sphingolipidosis

• Glycogen storage disease

• Mucopolysaccharidosis

• Globoid cell leukodystrophy

Which disease is associated with a cherry red spot on the macula and hepatosplenomegaly?

• Tay-Sachs disease

• Niemann-Pick disease

• Fabry disease

• Gaucher's disease

Tay-Sachs disease is characterized by the accumulation of which substance?

• Heparan sulfate

• GM2 ganglioside

• Sphingomyelin

• Ceramide trihexoside