5 Written Questions

1. alpha-L iduronidase
   Glycosaminaglycan: Decrease Heparan Sulfate & dermatan sulfate Abnormal spine bones, claw hands and Cloudy corneas, & mental retardation
2. hydroxymethylbilane synthase ↑Porphobilinogen delta-aminolevulinic acid
   neurologic damage
3. Ceraminidase ↑ Ceramide
   Painful and progressive joint deformity
4. uroporphyrinogen decarboxylase ↑uroporphyrin
   increased free radical, photosensitivity
5. Lysyl hydroxylase or procollagen peptidase Decrease Procollagen
   skin hyperelasticity, may cause serious vascular problems
   
   (-may be deficiency of one of the enzymes needed for modification of the alpha chains to the mature fibril
   -may be actual mutations in the AA sequence of the chains)

5 Matching Questions

1. Hurter syndrome
2. Tay-Sachs disease
3. Marfan syndrome
4. Niemann-Pick disease
5. Gaucher disease

1. a Beta-glucocerebrosidase
   ↑ Glucocerebroside
   Hepatosplenomegaly
2. b Fibrillin 1
   ↑Nonfunctiona elastin
   Limbs discrepancy
3. c iduronate-2-sulfatase Glycosaminaglycan: Decrease dermatan sulfate and heparan sulfate Physical deformity and mental retardation
4. d Sphingomyelinase ↑ sphingomyelin Hepatosplenomegaly; Cherry-red macula
5. e Beta-Hexosaminidase A
   ↑ Gangliosides
   Cherry-red macula; neurodegeneration

5 Multiple Choice Questions

1. bilirubin glucuronyltransferase ↑unconjugated bilirubin
   unconjugated hyperbilirubinemia (severe)
   1. Gilbert's syndrome
   2. Ehlers-Danlos syndrome
   3. Crigler-Najjar I syndrome
   4. Crigler-Najjar II syndrome
2. defective transport protein of bilirubin ↑conjugated bilirubin diglucuronide conjugated hyperbilirubinemia
   1. Hurter syndrome
   2. Marfan syndrome
   3. Hurler syndrome
   4. Rotor syndrome
3. Alpha- Galactosidase
   ↑ Globosides
   Reddish-purple skin rash; Kidney and heart failure
   1. I-cell disease
   2. Farber disease
   3. Fabry disease
   4. Gaucher disease
4. Abnormality in phosphorylate mannose:
   lysosomal enzymes (Acid hydrolase) Glycoprotein degradation problem:
   ↑ Accumulation of glycoprotein fragments Skeletal abnormalities; very progressively severe, usually can't survive childhood
   1. Farber disease
   2. Fabry disease
   3. Gaucher disease
   4. I-cell disease
5. alpha 1-antitrypsin enzyme
   Increase protease activity (elastase) Decrease elastin
   Emphysema (Decrease elastin)
   1. Fabry disease
   2. Tay-Sachs disease
   3. Marfan syndrome
   4. alpha 1-antitrypsin deficiency

5 True/False Questions

1. Osteogenesis imperfecta → alkaline phosphatase
   Decrease Type I collagen
   Kyphoscoliosis; blue sclerae

   True        False

2. Dubin-Johnson syndrome → Lysyl hydroxylase or procollagen peptidase Decrease Procollagen
   skin hyperelasticity, may cause serious vascular problems
   
   (-may be deficiency of one of the enzymes needed for modification of the alpha chains to the mature fibril
   -may be actual mutations in the AA sequence of the chains)

   True        False

3. Crigler-Najjar I syndrome → bilirubin glucuronyltransferase ↑unconjugated bilirubin
   unconjugated hyperbilirubinemia (severe)

   True        False

4. Congenital disorders of glycosylation → Abnormal glycosylation of N-linked oligosaccharides
   Glycoprotein degradation problem:
   ↑ Accumulation of glycoprotein fragments hepatic-intestinal disease; severe developmental delay

   True        False

5. Gilbert's syndrome → bilirubin glucuronyltransferase ↑unconjugated bilirubin
   unconjugated hyperbilirubinemia

   True        False