Fatty Acid Flashcards
Carnitine deficiency
inhibits beta oxidation. important to prevent hypoketotic hypoglycemic encephalopathy. can’t use fatty acids for energy. causes: malnutrition, vegetarianism, liver disease.
high carb diet, carnitine supp. medium chain FA supp.
MCADD (Medium Chain Acyl-CoA Dehydrogenase Deficiency)
beta oxidation enzyme def: Acyl-CoA Dehydrogenase def. diagnostic: high levels of dicarboxylic acids (from w-oxidation). SIDS (sudden infant death syndrome).
low fat/high carb diet. avoid fasting. important to prevent hypoketotic hypoglycemic encephalopathy.
Methylmalonic acidemia
beta oxidation enzyme def. methylmalonyl CoA mutase def or B12 def. acidemia.
Zellweger
no peroxisome synth. no peroxisome oxidation of VERY LONG FA. elevated VLcFA
Adrenoleukodystrophy
no VERY LONG FA transport across peroxisome membrane. elevated VLcFA
Refsum
no a-oxidation of Phytanic acid. elevated Phytanic acid. severe neuro problems.
restrict foods w/ Phytanic Acid