Fatty Acid Oxidation Disorders

Question 1

3 Parts of Pathophysiology of FAODs

Answer 1

Rapid glycogen depletion–hypoglycemia in fasting state
Deficiency of energy substrate for muscle and brain
Accumulation of unmetabolized FA in liver and muscle

Question 2

Major Clinical Phenotype of FAOD

Answer 2

Hypoketptic hypoglycemia
Myopathy and/or cardiomyopathy
Hepatic failure/dysfunction
Maternal liver disease in pregnancy with affected fetus

Question 3

2 Etiologies for FAOD

Answer 3

Primary disease of carnitine pathway

Primary disease of FA B-oxidation

Question 4

2 functions of L-carnitine

Answer 4

Binds to acyl residues in blood and facilitates cellular uptake/elimination
Required for transport of long chain FA acyl residues across inner mt membrane for B oxidation

Question 5

Therapy for FAOD Acute illness

Answer 5

High concentration IV dextrose
Some IV carnitine
Monitor for hypoglycemia, liver failure, muscle breakdown

Question 6

Therapy for chronic FAOD

Answer 6

Avoid prolonged fasting
Supplement with MCT oils (not SCAD/MCAD)
Supplement with L-carnitine (not LCHAD)
Avoid liver toxic medications

Question 7

OCTN2 deficiency gene

Answer 7

SLC22A

Question 8

OCTN2 deficiency NBS results

Answer 8

Low C0 and acyl-carnitine

Question 9

CPT1A deficiency gene

Answer 9

CPT1A

Question 10

CPT1A deficiency NBS result

Answer 10

Elevated free carnitine and increased CP:C16 +18 ratio

Question 11

CPT2 and CACT deficiency genes

Answer 11

CPT2 and CACT

Question 12

CPT2 and CACT deficiency NBS result

Answer 12

Elevated C16 and/or C18

Question 13

VLCAD deficiency gene

Answer 13

ACADVL

Question 14

VLCAD deficiency NBS result

Answer 14

Elevated C14:1 and longer chain acyl-carnitines

Question 15

MCAD Deficiency gene

Answer 15

ACADM

Question 16

MCAD deficiency NBS results

Answer 16

Elevated C8 and lesser elevated C6 and C10

Question 17

SCAD deficiency gene

Answer 17

ACADS

Question 18

SCAD deficiency NBS result

Answer 18

Elevated C4

Question 19

LCHAD deficiency gene

Answer 19

HADHA gene

Question 20

LCHAD deficiency NBS result

Answer 20

Elevated C16-OH +/- C18

Question 21

Do NOT use MTC oils for

Answer 21

MCAD

SCAD

Question 22

Do NOT use L-carnitine for

Answer 22

LCHAD

Question 23

Carnitine cure for

Answer 23

OCTN2

Question 24

Poor outcome likely with

Answer 24

CPT2 and CACT deficiency

Question 25

Late-onset exercise-induced myopathy symptoms in

Answer 25

OCTN2 deficiency
CPT2 and CACT deficiency
VLCAD deficiency