Deficiencies

Question 1

CPT II Deficiency

Answer 1

– autosomal recessive disorder

• disorder of lipid metabolism
• no acylcarnitine –> acyl CoA
• increased fatty acylcarnitine in serum
• ketone body synthesis = normal in starvation state
• diagnose with lipid-serum profile

Question 2

3 types of CPT II DEficiency

Answer 2

adult onset: characterized by muscle pain, weakness & myoglobinuri after long exercise or fastin

neonatal onset & infant onset: irritability, FTT, often fatal

Question 3

Acyl CoA Dehydrogenase Deficiency

Answer 3

1st step IN B-OX!!

• frequent inborn error of metabolism in NW European decented ppl is medium chain CoA DH deficiency (MCAD)
• infants PRESENT w/ Reye’s syndrome, fasting hypoketotic hypoglycemia, hepatic encephalopathy, SIDS
• DIAGNOSIS: lipid profile, ID mut. via DNA sequencing
• PROGNOSIS: if ID’d b4 severe hypoglycemic episodes= not bad (age improves fasting tolerance)

Question 4

What do you get a build up of in MCAD?

Answer 4

medium chain acyl CoA’s (FA’s?)

Question 5

Jamaican vomiting sickness

Answer 5

• similar to MCAD SX’s after eating ackee fruit
• contains hypoglycin: potent inhibitor of medium & short chain acyl CoA DH
• not usually fatal

Question 6

Ketoacidosis (not disease but condition indicative of disease)

Answer 6

• depression of blood pH by elevated levels of ketone bodies CAUSED by:
• starvation
• diabetes

Often compensation for hypoglycemia
-absence of elev8d ketone bodies in hypoglycemic pt indicates a defect in FA metabolism (MCAD)

Question 7

Mitochondrial disease

Answer 7

Diseases which result from mitochondrial dysfunction tend to be heterogenous in their severity
- Diseases which result from mitochondrial dysfunction tend to be progressive– they get worse with age

Question 8

myoadenylate deaminase deficiency

Answer 8

-inherited
-AMP deaminase gene is mut8d=inactive enzyme
-during exercise- TCA intermedi8s are not replenished
-muscles starved
-^ glycolysis/acidosis
SX’s: muscle pain & weakness when exercising
— no increase in blood NH4+ after exercise
— no AMPD1 in muscle biopsy

Question 9

pyruvate dehydrogenase deficiency

Answer 9

• result in lactic acidosis (a.k.a. lacticacidemia)
• effects are primarily neurological, affecting brain development
• –Brain cannot utilize fatty acids, and needs glucose for fuel
• One possible treatment for PDH deficiency caused by mutations that lower the Vmax of the E1 subunit is thiamin (a.k.a. vitamin B1)
• -thiamin – precursor for TPP, and major factor in PDH

Question 10

Kwashiorkor

Answer 10

protein/nitrogen deficiency

• often seen in patients in/recovering from severe trauma
• edema, irritability, anorexia, ulcerating dermatoses, and enlarged liver
• sufficient calorie intake/insufficient protein consumption
• occurs in areas of famine or poor food supply

Question 11

(HHH syndrome)

Answer 11

-defect in ornithine/citrulline transporter
Increase in ammonia – non-descript (happens in all urea cycle disorders) - carbamoyl phosphate building up in mitochondria o it cannot get out in form of citruline - homocitrulline – can get out into the blood