metabolism2

Question 1

ornithine transcarbamoylase deficiency

Answer 1

lethargy, vomiting, confusion; elevated blood ammonium and increased orotic acid excretion

Question 2

acyl-CoA dehydrogenase deficiency

Answer 2

vomiting and lethargy and seizure after 1 day fast; found to have hepatomegaly; hypoglycemia and low plasma ketone level

Question 3

HGPRT deficiency?

Answer 3

lesch-nyhan (hyperuricemia, gout, aggression, self-mutilation, intellectual disability, dystonia)

Question 4

n-acetylglucosaminyl-1-phosphotransferase (lysosomal storage disorder)

Answer 4

I-cell disease (inclusion cell disease)- coarse facial features, clouded corneas, restricted joint movement, high plasma levels of lysosomal enzymes

Question 5

PDH complex deficiency?

Answer 5

lactic acidosis, neurologic defects, increased serum alanine

tx: increased intake of ketogenic nutrients (leucine and lysine)

Question 6

G6PD deficiency

Answer 6

hemolytic anemia after eating fava beans, having sulfa drugs

Heinz bodies– denatured hemoglobin that precipitates in RBCs due to oxidative stress

Bite cells– phagocytic removal of Heinze bodies by splenic macrophages

Question 7

fructokinase deficiency

Answer 7

fructose in blood and urine; no real symptoms

Question 8

aldolase B deficiency

Answer 8

hypoglycemia, jaunidice, cirrhosis, vomiting; urine dipstick is negative (because it only tests for glucose and this is fructose; but there is reducing sugar detectable in the urine)

Question 9

galactokinase deficiency

Answer 9

galactose in blood and urine; infantile cataracts (failure to track objects/ social smile)

Question 10

galactose-1-phosphate uridyltransferase deficiency

Answer 10

failure to thrive, jaundice, hepatomegaly, infantile cataracts, intellectual disability; ca lead to e coli sepsis in neonates

Question 11

n-acetylglutamate synthase deficiency

Answer 11

presents in neonatal period; poorly regulated respiration and body temperature, poor feeding, developmetal delay

Question 12

phenylalanine hydroxylase deficiency

Answer 12

intellectual disability, growth retardation, fair skin, eczema, musty body odor

tx: decreased phenylalanine and increased tyrosine in diet; NO DIET COKE

Question 13

alpha-ketoacid dehydrogenase

Answer 13

severe CNS defects, intellectual disability, death

tx: restrict isoleucine, leucine, valine; give thiamine supplementation

Question 14

homogentisate oxidase deficiency

Answer 14

dark connective tissue, brown pigmented sclerae, urine that turns black when exposed to air, arthralgias

Question 15

cystathione synthase deficiency

Answer 15

increased homocystine in urine, intellectual disability, osteoporosis, marfanoid habitus, lens subluxation (downward/inward), thrombosis, atherosclerosis

tx: decreased methionine intake, increased cysteine, increased B12, increased folate

Question 16

decreased cystathionine synthase affinity for pyridoxal phosphate

Answer 16

increased homocystine in urine, intellectual disability, osteoporosis, marfanoid habitus, lens subluxation (downward/inward), thrombosis, atherosclerosis

tx: increased B6 and cysteine in diet

Question 17

homocysteine methyltransferase deficiency

Answer 17

increased homocystine in urine, intellectual disability, osteoporosis, marfanoid habitus, lens subluxation (downward/inward), thrombosis, atherosclerosis

tx: decreased methionine intake

Question 18

systemic primary carnitine deficiency

Answer 18

hypoketotic hypoglycemia, weakness, hypotonia

Question 19

medium chain acyl-CoA dehydrogenase deficiency

Answer 19

presents in infancy or early childhood with vomiting, lethargy, seizures, coma, liver dysfunction

Question 20

lipoprotein lipase deficiency

Answer 20

pancreatitis, hepatosplenomegaly, eruptive/pruritic xanthomas; NO increased risk for atherosclerosis

Question 21

LDL receptor deficiency or defect

Answer 21

Accelerated atherosclerosis; MI before age 20, tendon (Achilles) xanthomas, corneal arcus

Question 22

hepatic overproduction of VLDL

Answer 22

acute pancreatitis