MMT: metabolic disorders aka hell pt 2

Question 1

what may be deficient in homocystinuria

Answer 1

cystathione b-synthase, decrease cytathione b-synthase affinity for PLP, methionine synthase, methylene tetrahydrofolate reductase

Question 2

how would we treat cystathione b-synthase deficiency

Answer 2

decrease methionine intake, increase cysteine, B12, and folate

Question 3

how would we treat methionine synthase deficiency

Answer 3

decrease methionine intake

Question 4

how would we treat methylene tetrahydrofolate reductase deficiency

Answer 4

supplement 5-methyl THF

Question 5

what are signs of homocystinuria

Answer 5

increased homocysteine in urine, cognitive impairment, osteoporosis, lens subluxation, atherosclerosis (increased MI and stroke risk)

Question 6

what is deficient in proprionic acidemia

Answer 6

proprionyl CoA carboxylase

Question 7

what are metabolite effects in proprionic acidemia

Answer 7

high proprionic acid, normal biotin

Question 8

what are symptoms of proprionic acidemia

Answer 8

poor feeding, vomiting, hypoglycemia, secondary hyperammonemia, hypotonia, lethargy, seizure

Question 9

how do we treat proprionic acidemia

Answer 9

low protein diet and carnitine supplementation

Question 10

what is deficient in methylmalonyl acidemia

Answer 10

methylmalonyl oA epimerase or mutase

Question 11

what are metabolite effects of methylmalynyl acidemia

Answer 11

elevates methylmalonic acid and propionic acid

Question 12

what are symptoms of methylalonyl acidemia

Answer 12

poor feeding, vomiting, hypoglycemia, secondary hyperammonemia, hypotonia, lethargy, seizure

Question 13

how do we treat methylmalonyl acidemia

Answer 13

low protein, supplement carnitine and B12

Question 14

what is primary carnitine deficiency

Answer 14

OCTN2 deficiency prevents bringing carnitine into cells

Question 15

what are signs of primary carnitine deficiency

Answer 15

cardiomyopathy, hypoketotic hypoglycemia, hepatomegaly, poor feeding, lethargy

Question 16

what is CPT-1 deficiency

Answer 16

inability to form acetylcarnitine in the cytoplasm of the mitochondria, leading to high free carnitine and low acetylcarnitine

Question 17

what are signs of CPT-1 deficiency

Answer 17

poor appetite, hepatomegaly, hypoketotic hypoglycemia, hypotonia, lethargy. signs may be triggered by fasting due to dependence on fatty acid oxidation

Question 18

how do we treat CPT-1 deficiency

Answer 18

regular feeding, high carb diet, low fat

Question 19

describe CPT-II deficiency

Answer 19

inability to exchange carnitine for CoA in the mitochondrial matrix, leading to excess acylcarnitine

Question 20

what are symptoms of CPT-II deficiency

Answer 20

cardiomyopathy, arrhythmia, liver failure, sudden death, hypotonia, hypoketotic hypoglycemia, poor feeding, lethargy, maybe muslce pain/myoglobinuria after exercise

Question 21

how do we treat CPT-II deficiency

Answer 21

regular feeding, high carb low fat diet, carnitine supplement

Question 22

descrieb CACT deficiency

Answer 22

prevents acylcarnitine transport into the mitochondrial matrix, causing buildup of long chain acylcarnitines

Question 23

what are symptoms of CACT deficiency

Answer 23

hyperammonemia, heart issues, hypotonia, hypoketotic hypoglycemia, hepatomegaly, lethargy, poor feeding

Question 24

how do we treat CACT deficiency

Answer 24

regular feeding, high carb low fat diet, carnitine supplement

Question 25

describe MCAD deficiency

Answer 25

deficiency mediumchaina cyl CoA dehydrogenase prevents oxidation of medium-chain fatty acids

Question 26

what are metabolite effects in MCAD

Answer 26

high octanoylcarnitine

Question 27

what are symptoms of MCAD deficiency

Answer 27

fine until they decompensate, usually after fasting or an event of increased energy requirements. they'll have vomiting, seizure, hypoketotic hypoglycemia, coma, seizures

Question 28

how do we treat MCAD deficiency

Answer 28

regular meals, high carb low fat diet, carnitine supplement

Question 29

what is x-linked adrenoleukodystorphy

Answer 29

defects in ABCD1 gene prevents transport of very long chain fatty acyl CoA into peroxisomes, causing accumulation.

Question 30

what are symptoms of x-linked adrenoleukodystrophy

Answer 30

adrenoinsufficiency, demyelination, behavior issues, hyperactivity

Question 31

how do we treat x-linked adrenoleukodystrophy

Answer 31

lorenzo's oil, stem cell transplant, gene therapy

Question 32

what is refsums disease

Answer 32

PHYH gene mutation causes defect in phytanoyl CoA a-hydroxylase that normally oxidized phytanic acid

Question 33

what are signs of refsums

Answer 33

night blindness, loss of smell, cerebral degeneration, deafness, peripheral neuropathy, scaly skin

Question 34

how do we treat refsums

Answer 34

avoid food with phytanic acid (dairy, beef, fatty fish)

Question 35

what is zellweger spectrum disorder

Answer 35

PEX gene mutation impacts formation of peroxisomes and accumulation of very long chain fatty acids

Question 36

what is deficient in hurler syndrome

Answer 36

a-L-idorunidase

Question 37

what are metabolite effects in hurler syndrome

Answer 37

heparan sulfate and dermatan sulfate

Question 38

what are signs of hurler syndrome

Answer 38

developmental delay, gargoylism, coarse facial features, airway obstruction, corneal clouding

Question 39

what is deficient in hunter syndrome

Answer 39

iduronate-2-sulfatase

Question 40

what is the inheritance of hunter syndrome

Answer 40

X linked recessive

Question 41

what are metabolite effects in hunter syndrome

Answer 41

heparan sulfate and dermatan sulfate

Question 42

what are symptoms of hunter syndrome

Answer 42

developmental decline, changin facial features, progressive skill loss, behavior disturbance, no corneal clouding, not apparent at birth

Question 43

how do we treat hunter syndrome

Answer 43

idursulfase replacement therapy