Fatty Acid Oxidation 3-28 Flashcards
MCADD
Medium Chain Acyl CoA Dehydrogenase Deficiency
Symptoms in MCADD
non-ketotic hypoglycemia
How is MCADD diagnosed?
high concentration of octanoyl-carnitine by MS
How is MCADD treated?
Reduce the amount of fats in diet, use carbohydrates as main energy source, AVOID FASTING
Adenoleukodystrophy defect
ADLP usually imports VLCFA’s to the peroxizome, but can’t, so stuck in the cytoplasm
What role does ELOVL enzymes play in adenoleukodystrophy?
They usually pass long chain fatty acids to the peroxisome, but when unable to do so, they continue elongating the chain, exasserbating
Symptoms of Adenoleukodystrophy
demyelination of nerves, dysfunctional adreno glands
Treatment for adrenoleukodystrophy
Lorenzo’s Oil (before damage has been done). Works by toning down ELOVL activity with oleic and eucic acid (4:1)
defect of Congenital Adrenal Hyperplasia
deficiency of 21-hydroxylase, more androgen steroids in the system, and more corticosteroids stimulating the adrenals
HPA Axis
Hypothalamus, Pituitary, Adrenal physiological pathway
Symptoms of CAH
ambiguous genitalia in females, adrenal overactivity
Why is corticol replacement therapy useful in CAH
Adrenals are unable to synthesize the amount of cortisol called for by stimulation with adrenalcorticotropin hormone from the pituitary
Treatment for CAH
genital surgery to allow females to be fertile, glucocorticoid supplementation to allow negative feedback on the hypothalamus (CRH) and pituitary (ACTH).
defect of Androgen Insensitivity Syndrome (AIS)
androgen receptor gene on X chr with DBD, Steroid Receptor domain- many mutations possible
symptoms of AIS
wide range depending on the mutation: PAIS to CAISl always infertile
