MCP Diseases Flashcards Preview

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Flashcards in MCP Diseases Deck (50):
1

Tay-Sachs Disease

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

2

Gm: Gangliosidosis

-beta-galactosidase deficiency
-gangliosides and keratin sulfate accumulate

3

Gaucher Disease

-beta-glucosidase (glucocerebrosidase) deficiency
-glucocerebrosides accumulate

4

Metachromatic leukodystrophy

-arylsulfatase A deficiency
-sulfatides accumulate

5

Krabbe disease

-beta-galactocerebrosidase (galactocerebrosidase) deficiency
-galactocerebrosides accumulate

6

Farber disease

-ceraminidase deficiency
-ceramide accumulates

7

Niemann-Pick disease

-sphingomyelinase deficiency
-sphingomyelin accumulates

8

Fabry disease (X-linked)

-alpha-galactosidase deficiency
-globosides accumulate

9

Sandhoff disease

-beta-hexosaminidase A (beta-subunit) &B
-GM2/globosides accumulate

10

Zellweger Syndrome

-lack of functional peroxisomes
-DHAP-->ethanolamine rxn can't occur, since the rxn takes place in peroxisomes

11

Homocystinuria

-cystathionine synthase deficiency
-rapidy accelerated atheroschlerosis, mental retardation

12

Cystathioninuria

-cystathionase deficiency
-accelerated atheroschlerosis

13

Pernicious/Megaloblastic anemia

-THF/cobalamin deficiency
-immature RBCs in circulation
-cobalamin deficiency also causes demyelination/degeneration of spinal cord

14

Folate trap

-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

15

Ammonia toxicity

-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

16

Maple syrup urine disease, branched chain ketoaciduria

-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?)

17

phenylketonuria

-phenylalanine hydroxylase deficiency
-phenylalanine can't be converted into tyrosine *tyrosine become an essential amino acid* phenylalanine derivatives build up, many are neurotoxic

18

alkaptonuria

-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)

19

tryptophan deficiency (pellagra)

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

20

Cystic fibrosis

-improper folding of CFTR Cl- channels
-pancreatic enzyme deficiency (among other symptoms)

21

Hartnup's disease, similar to pellagra

-neutral/aromatic amino acids can't be transported from gut/renal tubules
-4 Ds

22

cystinuria

-basic amino acids/cysteine can't be transported from gut/renal tubules
-cysteine forms crystals, causes UTIs/kidney stones

23

Arginosuccinic aciduria (ammonia intoxication)

-arginosuccinase deficiency
-NH4/arginosuccinic acid in blood
-arginosuccinic acid in urine
-normal intelligence

24

Hyperammoniemia (ammonia intoxication)

-carbamoyl phosphate synthase deficiency
-high NH4 in blood
-normal intelligence

25

Arginiemia (ammonia intoxication)

-arginase deficiency
-high NH4, arginine in blood
-Arg, Lys, ornithine in urine
-normal intelligence

26

Citrullinemia (ammonia intoxication)

-argininosuccinate synthetase
-high NH4, citrulline in blood
-citrulline in urine
-mental retardation

27

Hyperornithinemia (ammonia intoxication)

-ornithine transcarbamylase
-high NH4, orotate, ornithine in blood
-ornithine in urine
-normal intelligence

28

Smith-Lemli-Opitz Syndrome

-7-dehydrocholesterol-7-reductase deficiency
-impaired cholesterol synthesis

29

Type I Hyperlipoproteinemia, familial LPL deficiency

-LPL or ApoCII deficiency
-accumulate chylomicron TAGs in plasma
-higher pancreatitis risk

30

Non-alcoholic fatty liver (hepatic steatosis)

-imbalance between TAG synthesis and VLDL secretion
-liver stuff??

31

Familial type III hyperlipoproteinemia

-can't clear chylomicrons or IDL
-hypercholesterolemia and premature atheroschlerosis

32

Familiar hypercholesterolemia (FH), type II hyperlipidemia

-deficiency of LDL receptor LDL-R
-elevated plasma cholesterol

33

Tangier disease

-ABCA1 deficiency (whatever that does)
-absence of HDL, since lipid-free apo A1 degraded

34

3-beta-hydroxysteroid deficiency

-pregnenolone builds up, can't be converted to progesterone
-pretty much no mineralocorticoids, glucocorticoids, androgens, estrogens (since 1st step in further synthesis blocked)

35

17-alpha-hydroxylase deficiency

-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

21-alpha-hydroxylase deficiency

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

37

11-beta1-hydroxylase deficiency

-corticosterone can't form, so neither can cortisol or aldosterone
-too many androgens (resembles 21 deficiency)

38

Ricketts (vit D deficiency)

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

39

Osteomalacia

-bones made already, become demineralized; fractures common
-prophylactic vit D?

40

renal osteodystrophy (consequence of chronic renal disease)

-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

Hyperthyroidism

-no PTH at all
-hypocalcemia and hyperphosphatemia
-calcium and calcitrol

42

Orotic aciduria

-orotic acid builds up in blood, excreted in urine
-give uridine or cytidine, gives body needed pyrimidine bases and inhibits CPH

43

Gout

-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

Lesch-Nyhan Syndrome (XLR)

-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

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

-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

medium-chain acyl-Coa dehydrogenase (MCAD) deficiency

-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

Lactose Intolerance

-lactase (beta-galactosidase) deficiency and associated symptoms

48

Von-Gierke Disease (glycogen storage disease)

-G6P or transport system defective
-glycogen buildup in liver and kidney
-failure to thrive

49

Anderson Disease

-alpha 1,4-->alpha 1,6 defective
-liver and spleen affected
-normal amount of glycogen, but long outer branches
-early progressive cirrhosis

50

McArdle Disease

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