5/15/14

Question 1

Fabry’s Disease

Answer 1

-XR
-Defect in alpha galactosidase A leads to acumulation of Ceramide Trihexosida
-Peripheral neuropathy
Cataracts
-cardiac and renal disease (usually cause of death)

Question 2

Gaucher’s disease

Answer 2

• XR
• Defect in glucocerebroside leads to accumulation of glucocerbroside
• Bone pain and anemia/thrombocytopenia and HSM

Question 3

Niemann Pick

Answer 3

• AR
• Sphiingomylinase is deficient, accumulation of sphingomylin
• Cherry Red Spot and HSM
• Death by 2 years or live normal life

Question 4

Tay Sach’s

Answer 4

• AR
• Defect in hexosaminidase A leads to accumulation of GM2
• Cherry Red Spot and progressive neurodegeneration, microcephaly

Question 5

Krabbe’s Disease

Answer 5

• Beta galactosidase leads to accumulation of galactocerbroside
• Peripheral neuropathy, optic atrophy, PAS positive

Question 6

Metachromatic Leukodystrophy

Answer 6

• Defect in arylsulfatase A leads to accumulation of sulfatides
• Normal until 6 months of age and then progressive decline with ataxia and dementia

Question 7

Hurlers Syndrom

Answer 7

• AR
• Defect in iduronidase A leads to accumulation of heparan and dermatan sulfatase
• Cataracts, large tongue, death at young afge

Question 8

Hunters

Answer 8

• XR milder form of hurlers
• Iduronidase asulfatase
• Gargoyle like faces and no cataract/macroglossia

Question 9

Pompe’s DIsease

Answer 9

• DEfects in alpha 1,4 galactosidase leads to accumulation

- Cardiomegally, hepatomegally, hypotonia

Question 10

Sideroblastic Anemia

Answer 10

• Defect in ALA synthase (XR and rare)

- B6, succinyl coA and glycine required co factors

Question 11

Lead poisoning

Answer 11

inhibits ferrochelatase mainly and also D-ALA dehydratase

Question 12

AIP

Answer 12

• AD cytoplasmic
• Defect in porphobilinogen dehydratase or uroporphyrinogen synthetase
• Accumulation of ALA and porphobilinogen (not porphyrins) leads to red colored urine
• Red urine, Neurological, and GI symptoms

Question 13

PCT

Answer 13

• AD cytoplasmic
• Defect in uroporhyringogen decarboxylase leads to accumulation of uroporphyrins (porphyrins)
• Tea colored urine and cutaneous sensitivity

Question 14

Lead Poioning

Answer 14

• Lead blocks Zn enzymes leads to basophilic stipling
• Also impairs Fe loading onto porphyrin leading to sideroblastic accumulation of Fe in mitochondria
• Neurologic (dementia and wrist drop), GI, etc