Fatty Acid Oxidation Defects

Question 0

FAOD Diagnosis

Answer 0

Acylcarnitine profile
Acylglycines in urine
Organic acids in urine

Question 1

FAOD Pathophysiology

Answer 1

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

Beta-oxidation shorten FA’s&raquo_space; acetyl-CoA&raquo_space; ketone bodies

energy released&raquo_space; ATP
FA preferred energy source for myocardium

all FAOD inherited AR

Question 2

MCAD

Answer 2

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

Question 3

VLCAD

Answer 3

CMP, rhabdo, weakness, coma during fasting

Question 4

LCHAD

Answer 4

strong association w/HELLP

hypoglycemia, lethargy, hypotonia, CMP