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Unit 6 > MCP Diseases > Flashcards

MCP Diseases Flashcards

1
Q

Tay-Sachs Disease

A

-beta-hexosaminidase A (alpha subunit) deficiency -gangliosides accumulate

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2
Q

Gm: Gangliosidosis

A
  • beta-galactosidase deficiency

- gangliosides and keratin sulfate accumulate

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3
Q

Gaucher Disease

A
  • beta-glucosidase (glucocerebrosidase) deficiency

- glucocerebrosides accumulate

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4
Q

Metachromatic leukodystrophy

A
  • arylsulfatase A deficiency

- sulfatides accumulate

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5
Q

Krabbe disease

A
  • beta-galactocerebrosidase (galactocerebrosidase) deficiency
  • galactocerebrosides accumulate
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6
Q

Farber disease

A
  • ceraminidase deficiency

- ceramide accumulates

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7
Q

Niemann-Pick disease

A
  • sphingomyelinase deficiency

- sphingomyelin accumulates

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8
Q

Fabry disease (X-linked)

A
  • alpha-galactosidase deficiency

- globosides accumulate

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9
Q

Sandhoff disease

A
  • beta-hexosaminidase A (beta-subunit) &B

- GM2/globosides accumulate

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10
Q

Zellweger Syndrome

A
  • lack of functional peroxisomes

- DHAP–>ethanolamine rxn can’t occur, since the rxn takes place in peroxisomes

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11
Q

Homocystinuria

A
  • cystathionine synthase deficiency

- rapidy accelerated atheroschlerosis, mental retardation

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12
Q

Cystathioninuria

A
  • cystathionase deficiency

- accelerated atheroschlerosis

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13
Q

Pernicious/Megaloblastic anemia

A
  • THF/cobalamin deficiency
  • immature RBCs in circulation
  • cobalamin deficiency also causes demyelination/degeneration of spinal cord
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14
Q

Folate trap

A
  • cobalamin deficiency
  • homocysteine builds up since THF/cobalamin can’t convert it back to methionine (THF still stuck in 5-methyl form)
  • neurological problems without anemia
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15
Q

Ammonia toxicity

A
  • brain glutamate deficiency (alpha-ketoglutarate is used to make glutamate)
  • low levels of GABA/high tryptophan conversion to serotonin
  • uncontrolled NT levels in the brain
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16
Q

Maple syrup urine disease, branched chain ketoaciduria

A
  • branched-chain keto acid dehydrogenase (same enzyme converts alpha-ketos of valine, leucine, isoleucine)
  • keto acid builds up in pee and makes it smell like maple syrup (da fuck?)
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17
Q

phenylketonuria

A
  • phenylalanine hydroxylase deficiency
  • phenylalanine can’t be converted into tyrosine tyrosine become an essential amino acid phenylalanine derivatives build up, many are neurotoxic
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18
Q

alkaptonuria

A
  • homogentisate oxidase deficiency
  • homogentisic acid can’t be converted into 4-maleyl-acetoacetic acid (same steps as phenylalanine/tyrosine metabolism)
  • symptoms are dark urine and sometimes arthritis from build-up (can be diagnosed by looking at ear lobes with a light)
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19
Q

tryptophan deficiency (pellagra)

A

4 Ds: diarrhea, dementia, dermatitis, death (origin of redneck!)

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20
Q

Cystic fibrosis

A
  • improper folding of CFTR Cl- channels

- pancreatic enzyme deficiency (among other symptoms)

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21
Q

Hartnup’s disease, similar to pellagra

A
  • neutral/aromatic amino acids can’t be transported from gut/renal tubules
  • 4 Ds
22
Q

cystinuria

A
  • basic amino acids/cysteine can’t be transported from gut/renal tubules
  • cysteine forms crystals, causes UTIs/kidney stones
23
Q

Arginosuccinic aciduria (ammonia intoxication)

A
  • arginosuccinase deficiency
  • NH4/arginosuccinic acid in blood
  • arginosuccinic acid in urine
  • normal intelligence
24
Q

Hyperammoniemia (ammonia intoxication)

A
  • carbamoyl phosphate synthase deficiency
  • high NH4 in blood
  • normal intelligence
25
Q

Arginiemia (ammonia intoxication)

A
  • arginase deficiency
  • high NH4, arginine in blood
  • Arg, Lys, ornithine in urine
  • normal intelligence
26
Q

Citrullinemia (ammonia intoxication)

A
  • argininosuccinate synthetase
  • high NH4, citrulline in blood
  • citrulline in urine
  • mental retardation
27
Q

Hyperornithinemia (ammonia intoxication)

A
  • ornithine transcarbamylase
  • high NH4, orotate, ornithine in blood
  • ornithine in urine
  • normal intelligence
28
Q

Smith-Lemli-Opitz Syndrome

A
  • 7-dehydrocholesterol-7-reductase deficiency

- impaired cholesterol synthesis

29
Q

Type I Hyperlipoproteinemia, familial LPL deficiency

A
  • LPL or ApoCII deficiency
  • accumulate chylomicron TAGs in plasma
  • higher pancreatitis risk
30
Q

Non-alcoholic fatty liver (hepatic steatosis)

A
  • imbalance between TAG synthesis and VLDL secretion

- liver stuff??

31
Q

Familial type III hyperlipoproteinemia

A
  • can’t clear chylomicrons or IDL

- hypercholesterolemia and premature atheroschlerosis

32
Q

Familiar hypercholesterolemia (FH), type II hyperlipidemia

A
  • deficiency of LDL receptor LDL-R

- elevated plasma cholesterol

33
Q

Tangier disease

A
  • ABCA1 deficiency (whatever that does)

- absence of HDL, since lipid-free apo A1 degraded

34
Q

3-beta-hydroxysteroid deficiency

A
  • pregnenolone builds up, can’t be converted to progesterone

- pretty much no mineralocorticoids, glucocorticoids, androgens, estrogens (since 1st step in further synthesis blocked)

35
Q

17-alpha-hydroxylase deficiency

A
  • 17-alpha-hydroxylase allows androgen/cortisol precursor synthesis
  • with deficiency, progesterone only follows aldosterone pathway (opposite of 21 pathway)
  • only mineralocorticoids synthesized, no sex hormones or cortisol
36
Q

21-alpha-hydroxylase deficiency

A
  • 21-alpha-hydroxylase allows mineralocorticoid and glucocorticoid synthesis
  • with deficiency, mineralocorticoids/glucocorticoids absent (opposite of 17 pathway)
  • too many androgens!
37
Q

11-beta1-hydroxylase deficiency

A
  • corticosterone can’t form, so neither can cortisol or aldosterone
  • too many androgens (resembles 21 deficiency)
38
Q

Ricketts (vit D deficiency)

A
  • kids have enough collagen matrix, but not enough mineralization; bones become curvy, soft
  • prophylactic supplements early on for Rx?
39
Q

Osteomalacia

A
  • bones made already, become demineralized; fractures common

- prophylactic vit D?

40
Q

renal osteodystrophy (consequence of chronic renal disease)

A
  • not enough active synthesis of vit D (remember, kidney helps convert it to its active form too!)
  • hypocalcemia and hyperphosphatemia
  • give calcitrol and reduce dat phosphate
41
Q

Hyperthyroidism

A
  • no PTH at all
  • hypocalcemia and hyperphosphatemia
  • calcium and calcitrol
42
Q

Orotic aciduria

A
  • orotic acid builds up in blood, excreted in urine

- give uridine or cytidine, gives body needed pyrimidine bases and inhibits CPH

43
Q

Gout

A
  • excess uric acid causes precipitation of sodium urate crystals in joints of extremities
  • macrophages eat them, then rupture-inflamm process starts
  • either an abnormal PRPP synthase (not responsive to inhibition by purine nucleoside diphosphates) or partial HGPRT deficiency (causes increased PRPP and purine synthesis)
  • oxypurinol suicide inhibitor of xanthine oxidase or allopurinol to block uric acid production
44
Q

Lesch-Nyhan Syndrome (XLR)

A
  • severe or complete HGPRT deficiency
  • too many purines made, also PRPP increases (bad double whammy)
  • gout, hyperuricemia, self-mutilation, neurological disturbances
  • try allopurinol to reduce uric acid formation, but symptoms irreversible
45
Q

Adenosine deaminase (ADA) deficiency, combined with severe combined immunodeficiency (SCID)

A
  • too much deoxyadenosine and adenosine can’t be broken down into deoxyinosine and inosine
  • high levels of dATP inhibit ribonucelotide reductase so DNA synthesis inhibited, leuks can’t multiply
  • BM transplants, gene therapy
46
Q

medium-chain acyl-Coa dehydrogenase (MCAD) deficiency

A
  • octanylcarnithine accumulates, thought to be toxic
  • usually no symptoms until hypoglycemia, then rapid progression
  • treat by avoiding fasting and low-fat/high-carb diet
47
Q

Lactose Intolerance

A

-lactase (beta-galactosidase) deficiency and associated symptoms

48
Q

Von-Gierke Disease (glycogen storage disease)

A
  • G6P or transport system defective
  • glycogen buildup in liver and kidney
  • failure to thrive
49
Q

Anderson Disease

A
  • alpha 1,4–>alpha 1,6 defective
  • liver and spleen affected
  • normal amount of glycogen, but long outer branches
  • early progressive cirrhosis
50
Q

McArdle Disease

A
  • phosphorylase defective
  • skeletal muscle affected
  • limited ability to perform strenuous exercise, otherwise patient ok

Unit 6 (8 decks)

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