Fatty Acid Oxidation Defects Flashcards Preview

Inborn Errors Of Metabolism > Fatty Acid Oxidation Defects > Flashcards

Flashcards in Fatty Acid Oxidation Defects Deck (5)
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FAOD Pathophysiology

LCFA's get esterified in cytosol then enter mitochondria
M/SCFA's enter mitochondria directly

Beta-oxidation shorten FA's >> acetyl-CoA >> ketone bodies

energy released >> ATP
FA preferred energy source for myocardium

all FAOD inherited AR

1

FAOD Diagnosis

Acylcarnitine profile
Acylglycines in urine
Organic acids in urine

2

MCAD

most common FAOD
liver can't use MCFA's during prolonged fasting >>
hypoglycemia but inappropriately low urine ketones
lethargy, seizures
tx: exogenous glucose
high mortality p/w first crisis

3

VLCAD

CMP, rhabdo, weakness, coma during fasting

4

LCHAD

strong association w/HELLP
hypoglycemia, lethargy, hypotonia, CMP