Metabolic disorders Flashcards
1
Q
Conjunctival telangectasias
A
Ataxia telangectasia
Fabry’s disease
2
Q
Cherry red spot
A
Tay Sachs Niemann-Pick GM gangliosidosis Farber's disease Sandhoffs disease
3
Q
Tyrosinemia
A
Increased tyrosine, normal phenylalanine
-pseudomembranes, pseudodendrites
4
Q
Alkaptonuria
A
- pigment near MR and LR insertions (due to inability to metabolize tyrosine and phenylalanine)
- HGD gene
- osteoarthritis and valvular heart disease in adults
5
Q
Hurler syndrome
A
Mucopolysaccharidosis
- alpha iduronidase
- corneal clouding
- AR
- RPE degeneration, optic atrophy, glaucoma
6
Q
Hunter syndrome
A
Mucopolysaccharidosis
- X linked recessive
- iduronate sulfatase
- RPE degeneration, optic atrophy
7
Q
Fabry’s disease
A
- X linked recessive
- Lipidosis
- alpha galactosidase A
8
Q
Cystinosis
A
- defective transport of cystine
- AR
- corneal crystals, RPE degeneration
- renal failure
- Tx: cysteamine (systemic for renal disease, topical for corneal crystals)
9
Q
Refsum’s disease
A
- phytanic acid oxidase def
- AR
- retinal degeneration, optic disc pallor, cataracts
10
Q
Adrenoleukodystrophy
A
- peroxisomal disorder
- X linked, AR
- optic atrophy, RPE degeneration
- Tx: avoid long chain fatty acids
11
Q
Homocystinuria
A
- cystathionine synthase def
- AR
- dislocated lenses (inferonasal), optic atrophy, glaucoma
- thromboembolic disease
- Tx: vit B6, methionine restriction, high cysteine
