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M1 - MCM Exam 1 > Metabolic Diseases > Flashcards

Metabolic Diseases Flashcards

(69 cards)

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1
Q

Hemolytic Anemia

A

Premature Destruction of RBC

Caused by

  • inherited defect - spherocytosis
  • Hemoglobinopathies - thalassemia, sickle cell
  • Nutrient Deficiency - iron, folate (B9), vit B12
  • Infection
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2
Q

Tarui Disease (GSD VII)

A

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

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3
Q

Deficiency in PFK-1

A

Tarui Disease

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4
Q

F-1,6-BP Deficiency

A

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

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5
Q

Von Gierks Disease (GSD1a)

A

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

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6
Q

Deficiency of Glucose-6-phosphatase

A

Von Gierke’s Disease

Unable to free Glucose-6-phosphate

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7
Q

Fanconi-Bickel Syndrome

A

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
Q

Mutation in GLUT 2

A

Fanconi-Bickel Syndrome

Unable to take up glucose, fructose, or galactose

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9
Q

Sorbitol Accumulation

A

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
Q

Hereditary fructose intolerance

A

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
Q

Galactokinase Deficiency

A

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
Q

Classic Galactosemia

A

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
Q

Deficiency in GALT

A

Causes Classic Galactosemia

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14
Q

GSD0

A

Deficiency in glycogen synthase

Patients can’t make glycogen

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15
Q

Glycogen Synthase Deficiency

A

GSD 0

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16
Q

Cori Disease/GSD III

A

Deficiency in alpha-1,6-glucosidease

Debranching enzyme

Results in a large number of short branch glycogen

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17
Q

Deficiency of Alpha-1,6-glucosidase

A

Cori Disease

Inability to make glycogen branches

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18
Q

Andersen Disease/ GSD IV

A

Deficiency in glucosyl (4:6) transferase

Many long chain glycogen with fewer branches

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19
Q

Deficiency of glucosyl (4:6) transferase

A

Andersen Disease

Branching enzyme

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20
Q

McArdle Disease/ GSD V

A

Deficiency in muscle glycogen phosphorylase

Glycogen phosphorylase (rate-limiting step of glycogen breakdown)

Unable to supply muscles with enough glucose

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21
Q

Muscle Glycogen Phosphorylase Deficiency

A

McArdle Disease

Inability to break down glycogen

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22
Q

Hers Disease/ GSD VI

A

Deficiency of liver glycogen phosphorylase

Can’t break down in liver

Inability to control blood sugar

Causes hepatomegaly

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23
Q

Deficiency in Liver Glycogen Phosphorylase

A

Hers Disease/GSD VI

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24
Q

Pompe Disease/GSD II

A

Defect in acid maltase (alpha-glucosidase)

Used in lysosomal glycogen degradatoin pathway

Glycogen accumulates in lysosomes

ERT (enzyme replacement treatment)

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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
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
41
Defect in Phenylalanine Hydroxylase
PKU Inability to convert phenylalanine into tyrosine
42
Deficiency in Tyrosinase
Causes Albinism Converts tyrosine to Eumelanin
43
Albinism
Deficiency in Tyrosinare Helps convert tyrosine to melanin/eumelanin
44
Thyroglobulin
Used to produce T4 and T3 Can cause hyperthyroidism or hypothyroidism
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
47
Adenosine Deaminase (ADA) Overproduction
Hemolytic Anemia Depletion of adenosine pool Premature destruction of RBCs
48
Niemann-Pick Disease
Deficiency in Acid Sphingomyelinase (A-SMase) Unable to breakdown sphingomyelin Causes hepatomegaly (enlarged liver) HALLMARK - Cherry red spot in eye
49
Deficiency in Acid Sphingomyelinase (AS-Mase)
Niemann-Pick Disease
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
54
Defect in Dimeric amino acid transport
Cystinuria
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
56
Defect in neutral an non-polar amino acids
Hartnup's Disease Causes cerebellar ataxia, photodermatitis, and photosensitivity
57
Thiamine (B1) Deficiency
Progresses from Werknicke's, Korsakoff's, to Dry and Wet Beriberi
58
Which vitamin deficiency causes Beriberi
Thiamine (B1)
59
Riboflavin (B2)
Due to poor dietary intake Magenta-colored tonue, cheilosis/stomatitis
60
What causes Pellagra?
Deficiency in Niacin (B3) And untreated Hartnup's disease Pellagra (4D's) - Diarrhea, dementia, dermatitis, and death
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
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

M1 - MCM Exam 1 (7 decks)

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