infantile cataracts, hepatomegaly, jaundice, failure to thrive - answer✔✔uridyltransferase
deficiency
causes of Down syndrome - answer✔✔1) meiotic nondisjunction (95%)
2) unbalanced robertsonian translocation (extra arm on Ch 21)
3) mosaic trisomy 21
treatment of hyperammonemia (HCV, urea cycle deficiency) - answer✔✔limit protein in diet
benzoate, phenylbutarate (bind a.a.'s, increased aa exretion)
actulose (acidify GI tract, trap NH4 for excretion)
effect of hyperammonemia on metabolism - answer✔✔decreased alpha ketoglutarate, inhibiting
TCA cycle
niemann-pick - answer✔✔sphingomyelinase, sphingomyelin
hepatosplenomegaly, aseptic necrosis of femur, bone crises, macrophages that look like
crumpled tissue paper - answer✔✔Gaucher's sphingolipidosis (glucocerebroside accumulation)
causes of albinism - answer✔✔tyrosine transporter defect
tyrosine hydroxylase deficiency
lack of migration of neural crest cells (melanocytes)
where do preganglionic parasympathetic neurons originate? - answer✔✔nuclei of cranial nerves
sacral spinal cord (S2-S4)
where do preganglionic sympathetic neurons originate? - answer✔✔thoracolumbar spinal cord
(T1-L3)
arginine derivatives - answer✔✔creatine
urea (urea cycle intermediate)
NO
glutamate derivatives - answer✔✔GABA
glutathione
snRNPs - answer✔✔combine with pre-mRNA in nucleus to form spliceosome to remove introns
what must happen in the nucleus so that 7-methylguanosine can be added to RNA in the cytosol?
- answer✔✔5' capping
what is the purpose of the mRNA 3' poly-A tail? - answer✔✔export of mRNA from the nucleus
protection from enzymatic degradation in the cytoplasm
infant with coarse facial features, clouded corneas, restricted joint movement - answer✔✔I cell
disease: failure of mannose phosphorylation of lysosome proteins in cis golgi --> lysosomal
enzymes are secreted outside the cell instead of sent to lysosome
mitochondrial DNA structure - answer✔✔double stranded circular
ligand-gated ion channels - answer✔✔GABA (Cl-)
glutamate (NMDA/Ca), AMPA/Na)
Ach at NMJ (Nm/Na, K)
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