Metabolics - Differential diagnosis (TRANSFERRED) Flashcards
1
Q
Reference: Genetics residents in-training examination – Fall 2020
List 4 metabolic conditions associated with cataracts.
A
- Galactosemia
- Lowe syndrome
- Cerebrotendinous xanthomatosis
- Zellweger syndrome
- PEX7-related RCPD
- MPS type 1
- Fabry
- Conradi Hunermann syndrome
- Pyrroline-5-carboxylate synthetase deficiency
2
Q
Reference: Genetics residents in-training examination – Fall 2020
List 4 metabolic conditions associated with “cherry red spot”
A
- Tay Sachs
- Sandhoff
- GM1 Gangliosidosis
- Galactosialodosis
- Less common in Niemann Pick A/B, metachromatic leukodystrophy, Krabbe, Farber, multiple sulfatase deficiency…
- List in Vademecum for reference
