Fatty Acid Metabolism Disorders

Question 1

What are the clinical symptoms of Tay-Sachs disease?

Answer 1

Cherry red spot on retina! Develop normally at first and then relentless deterioration of mental and physical abilities; deafness, blindness, muscle atrophy, paralysis, dementia, seizures

Question 2

What is the deficient enzyme in Tay-Sachs?

Answer 2

Deficiency of hexosaminidase A

Question 3

What are the clinical symptoms of Fabry’s Disease?

Answer 3

Skin rash, kidney failure

Question 4

What is the deficienct enzyme in Fabry’s?

Answer 4

Deficiency in alpha-galactosidase leading to Cer-Glc-Gal-Gal globotriacylceramine accumulation X-linked recessive

Question 5

What are the clinical symptoms of Gaucher’s?

Answer 5

Type 1: bruise easily, fatigue, anemia, low platelet count, enlarged liver and spleen, skeletal disorders

Type 2: Liver and spleen enlargement apparent by 3 months old, extensice and progressive brain damage

Type 3: variable liver and spleen involvement; brain involvement (often seen as seizures) gradually becomes apparent

Question 6

What is the deficient enzyme in Gaucher’s?

Answer 6

Deficiency in beta-glucocerebrosidase leading to accumulation of Cer-Glc glucosyl ceramide

Question 7

What are the clinical symptoms of Farber’s?

Answer 7

Impaired motor and mental ability, difficulty swallowing, arthritis, nodules under skin, chronic shortening of muscles or tendons around joints

Question 8

What is the deficient enzyme in Farber’s?

Answer 8

Ceramidase deficiency and accumulation of Acyl-sphingosine ceramide

Question 9

What are the clinical symptoms of Niemann-Pick?

Answer 9

Lack of muscle coordination, brain degeneration, learning problems, spasticity, slurred speech, enlarged liver and spleen

Question 10

What is the deficient enzyme in Niemann-Pick?

Answer 10

Spingomyelinase deficiency leading to accumulation of Cer-P-choline sphingomyelin