metabolism2 Flashcards Preview

STEP 1 > metabolism2 > Flashcards

Flashcards in metabolism2 Deck (22):
1

ornithine transcarbamoylase deficiency

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

2

acyl-CoA dehydrogenase deficiency

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

3

HGPRT deficiency?

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

4

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

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

5

PDH complex deficiency?

lactic acidosis, neurologic defects, increased serum alanine

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

6

G6PD deficiency

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

7

fructokinase deficiency

fructose in blood and urine; no real symptoms

8

aldolase B deficiency

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)

9

galactokinase deficiency

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

10

galactose-1-phosphate uridyltransferase deficiency

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

11

n-acetylglutamate synthase deficiency

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

12

phenylalanine hydroxylase deficiency

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

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

13

alpha-ketoacid dehydrogenase

severe CNS defects, intellectual disability, death

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

14

homogentisate oxidase deficiency

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

15

cystathione synthase deficiency

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

16

decreased cystathionine synthase affinity for pyridoxal phosphate

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

tx: increased B6 and cysteine in diet

17

homocysteine methyltransferase deficiency

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

tx: decreased methionine intake

18

systemic primary carnitine deficiency

hypoketotic hypoglycemia, weakness, hypotonia

19

medium chain acyl-CoA dehydrogenase deficiency

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

20

lipoprotein lipase deficiency

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

21

LDL receptor deficiency or defect

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

22

hepatic overproduction of VLDL

acute pancreatitis