Intro to Metab Flashcards
What are the 5 major classifications of metabolic conditions?
- Small molecule intoxication
- Reduced fasting intolerance
- Mito disorders
- Complex molecules
- Neurotransmitter
How would you generally describe Small molecule intoxication conditions?
when metabolites get to be too much, then can lead to liver failure
How would you generally describe Red fasting tolerance conditions?
these people are not able to go a while without food because body cannot make glucose or ketones —> then hypoglycemia
How would you generally describe Mito disorders?
Mito can produce ATP, so if we are energy deficient in this group —> HIGHLY variable pattern of dysfunction
How would you generally describe Complex molec disorders?
Large things like lipids, oligosacch, etc; Toxins accumulate and cannot be broken down
What is the basic version of the urea cycle?
Protein –> amino acids –> ammonia —> urea cycle
What is the basic version of the Citric Acid Cycle?
Carb —> Glucose –> Acetyl —> CAC —> enters ETC for ATP
What is the basic version of getting to ketones?
Fats —> fatty acids —> ketones
(fatty acids also enter CAC and ETC for ATP)
What are the 3 most common tests in the metabolic clinic?
- plasma amino acids (evaluate protein breakdown)
- Acylcarnitine profile (eval fat breakdown)
- Urine organic acids (all compounds at the same time)
review pathways
okie dokie!
Majority of IEM are inherited how?
AR
followed by X-linked and Mito
For Mito, what is homoplasmy?
there is various mito in the cells, and all of that is the same
ex: Leigh – all mito have the same problem
For Mito, what is heteroplasmy?
-2+ pop of Mito
some can be making ATP normally and others not
Which IEMs causing Hypoglycemia involve enlarged livers?
GSD1
GSD3
Which IEMs causing Hypoglycemia involve elevated lactate?
GSD1
Fruc-1,6-Biphos Def
