Inborn Errors

Question 1

• Glycogen Storage:
  1. ) Gaucher: Genetics? (2) Onset? Epi? PE findings? (2) X ray findings? (3) Enzyme? Histology?
  2. ) Tay Sachs: Genetics? (2) Onset? Blindness? Mental? Life expectancy? Eye? Startle reflex? Treatment?
  3. ) Fabry: Genetics? Onset? Angiokeratomas where? Arco? Heart? Renal? Hands/feet? Protein? Enzyme?
  4. ) Pompe: Genetics? Progressive what? Sleep? Heart? CK?
  5. ) Hunter: Genetics? Cornea?
  6. ) Hurler: Genetics? Cornea?

Answer 1

1. ) AR Ash Jews; Adult; Most common; Bone Pain/Incr. Abd; Erhlenmeyer, Anemia, Thrombo; B Glucosidase; Crumpled
2. ) AR Ash Jews; Early; Yes; Yes; Low; Cherry Red Spot; Increased; Supportive
3. ) XL; Teen; Swimsuit; Acroparathesias; LVH; Failure; Sole/palm pain; proteinuria; a galactidase
4. ) AR; Muscle weakness; Apnea; LVH; High
5. ) XL; No clouding
6. ) AR; Corneal clouding

Question 2

1. ) PKU: Genetics? Enzyme? Epi? Treatment? Signs? (5 M’s) Severity related to? Severe? Mild? 3 parts of treatment? Why? Maternal PKU?
2. ) MSUD: High what? (3) Neurotoxic? Defciency in? Smell due to?
3. ) Homocystenuria: Met to Homo? Homo to Met? Homo to cystine? Due to? 50% respond to? Signs? (4) Treatment? (4) Why?

Answer 2

1.) AR; PAH deficinecy; 1/16k; Microcepahly, Mischieveous, Musty, Less myelin, no monoamines; phe in serum; >12k;

Question 3

4. ) Tyrosemia: Signs? (5) Neurologic crisis? Treatment? (3) Pathognomonic?
5. ) Urea Cycle disorders: 6 common signs? AA’s in urea cycle? (2) Treatment?
6. ) OTC Defic: Epi? Leads to? CPS1? Genetics? Males?

Answer 3

4. ) Hepatomegaly, jaundice, rickets, renal dyfx.; yes; Nitisisone, liver transplant, low tyrosine diet; fumaryl acetoacetate defic
5. ) Liver issues, primary alkalosis (high ammonia), failure to feed, somnelence, decreased thermo reg, ventilation issues; Arg, Asp; Ammonia Scavanging meds
6. ) Most common; High orotic acid; goes down pyr. synthesis pathway; X Linked; May die