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M1 - MCM Exam 1 > Metabolic Diseases > Flashcards

Flashcards in Metabolic Diseases Deck (69):
1

Hemolytic Anemia

Premature Destruction of RBC

Caused by

  • inherited defect - spherocytosis
  • Hemoglobinopathies - thalassemia, sickle cell
  • Nutrient Deficiency - iron, folate (B9), vit B12
  • Infection

2

Tarui Disease (GSD VII)

Deficiency in PFK-1 (rate-limiting step in glycoysis)

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Deficiency in PFK-1

Tarui Disease

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4

F-1,6-BP Deficiency

Causes similar issues similar to Tarui disease, creates issues with producing glucose from gluconeogenesis

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5

Von Gierks Disease (GSD1a)

Deficiency in Glucose-6-phosphatase (takes the phosphate off of G-6-P)

Unable to release glucose back into the blood stream from gluconeogenesis and glycogenolysis

6

Deficiency of Glucose-6-phosphatase

Von Gierke's Disease

Unable to free Glucose-6-phosphate

7

Fanconi-Bickel Syndrome

Mutation of GLUT 2 transport

Found in liver, pancreatis B cells, enterocytes, and renal tubular

Unable to take up glucose, fructose, and galactose

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8

Mutation in GLUT 2

Fanconi-Bickel Syndrome

Unable to take up glucose, fructose, or galactose

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9

Sorbitol Accumulation

Lack of sorbitol dehydrogenase

Sorbitol can not be converted to fructose

Causes swelling due to the osmotic ability of sorbitol

Hallmarked usually by cataracts

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10

Hereditary fructose intolerance

Dysfunction of of Aldose B (found on liver)

Fructose is able to bypass the first 3 steps of glycolysis but requires Aldose B

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11

Galactokinase Deficiency

Can't phosphorylate Galactose into Galactose-1-P

Causes a built up galactitol and galactose in the blood and urine

Causes cataracts

 

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12

Classic Galactosemia

Dysfunction in GALT

GALT is the rate-limiting step in conversion of galactose to glucose

Causes back-up and creates galactitol

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13

Deficiency in GALT

Causes Classic Galactosemia

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14

GSD0

Deficiency in glycogen synthase

Patients can't make glycogen

15

Glycogen Synthase Deficiency

GSD 0

16

Cori Disease/GSD III

Deficiency in alpha-1,6-glucosidease

Debranching enzyme

Results in a large number of short branch glycogen

17

Deficiency of Alpha-1,6-glucosidase

Cori Disease

Inability to make glycogen branches

18

Andersen Disease/ GSD IV

Deficiency in glucosyl (4:6) transferase

Many long chain glycogen with fewer branches

19

Deficiency of glucosyl (4:6) transferase

Andersen Disease

Branching enzyme

20

McArdle Disease/ GSD V

Deficiency in muscle glycogen phosphorylase

Glycogen phosphorylase (rate-limiting step of glycogen breakdown)

Unable to supply muscles with enough glucose

21

Muscle Glycogen Phosphorylase Deficiency

McArdle Disease

Inability to break down glycogen

22

Hers Disease/ GSD VI

Deficiency of liver glycogen phosphorylase

Can't break down in liver

Inability to control blood sugar

Causes hepatomegaly

23

Deficiency in Liver Glycogen Phosphorylase

Hers Disease/GSD VI

24

Pompe Disease/GSD II

Defect in acid maltase (alpha-glucosidase)

Used in lysosomal glycogen degradatoin pathway

Glycogen accumulates in lysosomes

ERT (enzyme replacement treatment)

25

Defect in Acid Maltase (alpha-glucosidase)

Pompe Disease/ GSD II

26

Succinyl-CoA Synthetase Deficiency (SCS)

Inability to convert Succinyl-CoA to succinate

Usually mutation in 2 of 3 subunits (SUCLA2 and SUCLG1)

Usually die within the first 10 years of life

27

Mitochondrial Depletion Syndrome

Not having enough mitochondria

Hypotonia, dystonia, severe hearing impairment

28

Manifestation of Mitochondria Dysfunction

Basically causes issues with every system

Especially the CNS

29

Fumarase Deficiency

Presents as fumarate in urine (not always) then progressed to succinate and lactate in urine

If left untreated it develops into 2-oxoglutaric aciduria

Death usually within the first 10 years

30

FA-Oxidation Defects

Occurs in carnitine shuttle, acy CoA dehydrogenase, trifunctional protein (TFP)

31

2-Oxoglutarate dehydrogenase Deficiency

Causes chronic acidosis

Excess 2-oxoglutarate is somewhat excreted in urine

32

MCAD Deficiency

Medium-chain acyl CoA dehydrogenase

Unable to breakdown MCAFs

Secondary carnitine deficiency

Accumulation of MCAF are posionous in liver

Messes with urea cycle and untreated can created deadly levels of ammonia in blood (crosses BBB)

Treated with dietary restriction

33

GOUT

Accumulation of uric acid and crystallizes in peripheral tissue (due to decreased temperature)

Accumulation of uric acid due to high levels of purine (too much red meat)

34

Crystallization of Uric Acid in Peripheral Tissues

GOUT

35

Lesch-Nyhan Syndrome

Defect in HGPRT enzyme in purine salvage pathway

Causes over production of uric acid

Leads to Gout

36

Deficiency in HGPRT purine salvage pathway

Lesch-Nyhan Syndrome

37

Biotin (B6), B12 and Folic Acid (B9) deficiency

Causes hyperhomocysteinemia and homocystinuria

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38

Maple Syrup Urine Disease

Inability to break down branch-chain acid (Val, Leu, Ile)

BCAA found in urine

Deficiency in branched-chain alpha-keto acid dehydrogenase complex (BCKD)

39

Inability to break down branch-chain amino acids

Maple Syrup Urine Disease

40

Phenylketonuria (PKU)

Defect in phenylalaine hydroxylase (PAH)

Accumulation of phenyllacetate and phenylpyruvate

Musty odor urine

Disrupts CNS

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41

Defect in Phenylalanine Hydroxylase

PKU

Inability to convert phenylalanine into tyrosine

42

Deficiency in Tyrosinase

Causes Albinism 

Converts tyrosine to Eumelanin

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43

Albinism

Deficiency in Tyrosinare

Helps convert tyrosine to melanin/eumelanin

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44

Thyroglobulin

Used to produce T4 and T3

Can cause hyperthyroidism or hypothyroidism

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45

Ammonia Toxicity

Occurs when there is an accumulation of nitrogen in body

Issue - NH3 is able to cross the blood brain barrier

Causes swelling in brain, pH imbalance, cerebral edema

46

Adenosine Deasminase (ADA) Underproduction

Turns Adenosine into Inosine

Severe Combine Immunodeficiency

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47

Adenosine Deaminase (ADA) Overproduction

Hemolytic Anemia

Depletion of adenosine pool

Premature destruction of RBCs

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48

Niemann-Pick Disease

Deficiency in Acid Sphingomyelinase (A-SMase)

Unable to breakdown sphingomyelin

Causes hepatomegaly (enlarged liver)

HALLMARK - Cherry red spot in eye

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49

Deficiency in Acid Sphingomyelinase (AS-Mase)

Niemann-Pick Disease

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50

Erythroblastosis Fetalis

When the second child has Rh factor and mother does not, the mother's immune system attacks the fetus

Mother is put on immunosuppressents

51

Disease when Fetus had Rh and Mother doesn't

Erythroblastosis fetalis

52

Spur Cell Anemia

Too much cholesterol in RBC membrane

Decreased fluidity - causes RBC to burst when they leave the spleen

53

Cystinuria

Defect in dimeric amino acid transport

Arginine, Lysine, Ornithine

Build up in kidney

Causes Renal Cholics

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54

Defect in Dimeric amino acid transport

Cystinuria

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55

Hartnup Disease

Defect in transporter of non-polar or neutral amino acids

Also Vitamin B3 deficiency

Alanine, valine, threonine tryptophan

Tryptophan deficiency - precursor for serotonin, melatonin and niacin

Causes cerebellar ataxia, photodermatitis, and photosensitivity

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56

Defect in neutral an non-polar amino acids

Hartnup's Disease

Causes cerebellar ataxia, photodermatitis, and photosensitivity

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57

Thiamine (B1) Deficiency

Progresses from Werknicke's, Korsakoff's, to Dry and Wet Beriberi

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58

Which vitamin deficiency causes Beriberi

Thiamine (B1)

59

Riboflavin (B2)

Due to poor dietary intake

Magenta-colored tonue, cheilosis/stomatitis

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60

What causes Pellagra?

Deficiency in Niacin (B3)

And untreated Hartnup's disease

Pellagra (4D's) - Diarrhea, dementia, dermatitis, and death

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61

What vitamin deficiency causes Pellagra?

B3 (Niacin)

62

Vitamin B5

Pantothenic Acid

Deficiency is super rare

63

Vitamin B6 Deficiency

Pyridoxine

Caused by isoniazid therapy

Causes sideroblastic anemia (can't incorporate iron into heme)

64

Biotin (B7)

Cofactor in most carboxylase enzymes

Deficiency occurs after eating too much raw egg whites

Causes alopecia, rashes, bowel inflammation

65

Folic Acid (B9)

Deficiency in fetus can cause spina bifida

Can be caused by side effects of some drugs

Causes homocysteinemia and Macrocytic Megablastic Anemia

66

Vitamin B12

Cobalamin

Cause Megaloblastic anemia, neuropathies, homocysteinemia

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67

Vitamin C Deficiency

Scurvy

Major problems with bleeding

Vitamin C (Ascorbate)

68

Vitamin A Deficiency

Major vision issues

Usually starts out with night-blindness

Caused by poor diet

69

Vitamin D Deficiency

Rickets and adult osteomalacia