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MCM Diseases > MCM DISEASES > Flashcards

MCM DISEASES Flashcards

1
Q

Niemann Pick Disease

A

Acid-Sphingomyelinase (A-SMase) is defective.

SM build up in liver, spleen, CNS, bone marrow

Cherry spot in eye, hepato/splenomegaly

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2
Q

Glycocalyx damage

A

Capillary leak, edema, hypercoagulability/platelet aggregation, inflammation

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3
Q

Vitamin B6 (pyrixodine) deficiency - usually in meat, veg, grains

A

ALT/AST synthesis.

Sideroblastic anemia (bone marrow can’t make RBCs)

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5
Q

Erythroblastosis fetalis

A

Mother is Rh- but after first child Rh+ then mother has antibodies. Second child is Rh- and antibodies attack fetus

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6
Q

Spur cell anemia

A

Too much cholesterol in RBC membrane. RBC membranes lyse/burst.

Type of hemolytic anemia

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7
Q

Vitamin B2 (Riboflavin) deficiency - usually from milk and eggs

A

Cheilosis (cracked corners of mouth) and red tongue. Results from poor intake or absorption issues. Precursor for FAD!

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9
Q

Cystic fibrosis

A

CFTR (CF transmembrane conductance regulator gene) mutates. Now no Cl- getting out of cell. Build up, now Na+ has to come in, followed by water bc of high NaCl. Leaves mucous thick in airway, susceptible to bacterial infection.

Autosomal recessive

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10
Q

Hartnup disease

A

Defect in transporter for nonpolar/neutral AAs (spec Trp). Tryptophan precursor for NAD+, serotonin, melatonin, niacin (B3 deficiency!).

Cerebellum ataxia, nystagmus, photodermatitis (pallagra-like bc of B3 deficiency)

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11
Q

Vitamin B7 (biotin) deficiency - usually in yeast, legumes, nuts

A

Used in Carboxylation Enzymes! Too many eggs (avidin) can cause deficiency

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12
Q

Vitamin B1 (thiamine) deficiency - usually from grain, yeast

A

Wernicke’s, Korsakoffs, Beriberi (wet - cardiac failure vs dry - muscle wasting). Too little B1 intake or problems absorbing (alcoholism).

Rare - remember processed rice has less B1 than brown rice

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13
Q

Cardiotonic drugs

A

Inhibit Na+/K+ ATPase in cardiac muscle. Increased Na+ in cell, thus increased Ca2+ in cell (NCX doesn’t have gradient). More Ca2+ means more contraction.

Jump start the heart. Treats A. Fib and CHF

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15
Q

Vitamin B12 (cobalamin) deficiency - usually in meat, milk, eggs

A

Absorbed by IF (ILEUM). Ileum resection or gastric bypass can affect absorption leading to Steatorrhea. May need supplements

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16
Q

Diabetes Type 1 and Type 2

A

Type 1 is insulin insufficiency. Immense system destroys pancreatic B cells. No insulin produced.

Type 2 is insulin resistance. Adult onset. Leads to loss of panc B cells. Usually from poor diet, also could be from pancreatitis/pancreatic cancer, trauma, etc.

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18
Q

Vitamin C (Ascorbic acid) deficiency - usually from fruits, veg

A

Scurvy - poor wound healing, easy bruising, bleeding gums

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19
Q

Von Gierke disease (I)

A

G6Pase defect. Cannot release glucose into the blood after gluconeogenesis/glycogenlysis. - leads to severe hypoglycemia, glycogen storage/enlargement in liver

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20
Q

Vitamin B3 (niacin) deficiency - usually from meat, yeast, fruit, veg

A

Hartnups disease - impaired AA absorption. Big problem with no Trp absorption. Trp precursor to B3.

Pallagra (4D’s) - dermatitis, diarrhea, dementia, death

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22
Q

Tarui Disease

A

Rare. Defect in PFK-1. Cannot make ATP. Hemolytic anemia.

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23
Q

Vitamin D deficiency - usually from sun or milk

A

Ricketts - bone malformation. Active form of Vitamin D is calcitriol

24
Q

Steatorrhea

A

Excess fat in stool (greasy, fatty). Can be caused by surgical resection of Ileum (no absorbing B12 and bile salts) or decreased lipase activity, pancreatic cancer, decreased bile secretion

25
Q

F1,6 bisphosphatase deficiency

A

RATE LIMITING STEP OF GLUCONEOGENESIS. Less ATP for RBC - hemolytic anemia

27
Q

Vitamin A

A

Vision issues. Vitamin precursor for retinol (needed for dark sight).

In US usually associated with malabsorption of fat or liver cirrhosis

28
Q

Vitamin B5 (Panthothenic acid) deficiency - widely distributed

A

Rare bc B5 in lots of foods. B5 used to make Co-A, could be lots of problems.

29
Q

Cystinuria

A

Defect in uptake of AAs (cystine, arginine, lysine). Cystine crystals form in kidneys. Renal colic (waves of abd pain) develops

31
Q

Vitamin B9 (folic acid) deficiency - usually in fresh greens, liver

A

Pools deplete in pregnancy and alcoholism. Important to replenish in pregnancy to prevent spina bifida.

41
Q

Crohn’s Disease

A

Autoimmune chronic inflammation of the GI tract (most often in Ileum). Surgical resection can be treatment, but then Ileum is unable to absorb Vit B12 (Cobalamin) and bile salts. Can lead to Steatorrhea (fatty stools).

42
Q

Hyperhomocysteinemia/homocysteinemia

A

Deficiency in Vitamin B6/B12 or genetic defect in cystathionine beta synthase causes defect in homocysteine metabolism. Results in eye lens dislocation, atherosclerotic heart disease and stroke, mental retardation. Can be fixed with supplementation

43
Q

Maple syrup urine disease

A

Branched chain alpha ketoacid dehydrogenase complex (BCKD) deficiency results in inability to metabolize BCAAs. Results in maple syrup smelling urine, also affects brain. Treated with diet excluding BCAAs (Leucine, isoleucine, valine)

44
Q

Phenylketonuria (PKU)

A

Enzyme that metabolizes phenylalanine to tyrosine is defective (phenylalanine hydrolase - PAH). Build up of phenylalanine and it is converted to other things. Affects development through blocking NTs, disrupting AA transport into the brain. Odor in urine.

One of first IEM (inborn errors of metabolism) diseases

45
Q

Ammonia toxicity

A

NH3+ (ammonia) is toxic bc permeable to membranes. Usually caused by problem in urea cycle or liver failure.

PH imbalance, swelling of astrocytes in brain leading to intracranial HTN.

Glutamate dehydrogenase usually converts glutamate to alpha ketoglutarate (KREBS CYCLE). If faulty, then less AKG for TCA cycle, also less glutamate for NT function.

46
Q

Fanconi-Bickel Syndrome

A

GLUT-2 Deficiency - cannot uptake glucose, galactose, fructose (IN LIVER). Hepatomegaly, fasting hypoglycemia, postprandial hyperglycemia (major way of getting glucose in and out of liver, thus blood sugar is less regulated)

47
Q

Sorbitol Dehydrogenase deficiency

A

Unable to make sorbitol (from glucose) into fructose. Build up of sorbitol (sugar alcohol) - cataracts and peripheral neuropathy.

This pathway is for when high levels of glucose (diabetes) and glucose needs to be made into other things (will also produce NADH for later use)

48
Q

Galactosemia

A

GALT deficiency. Galactose build up. Unable to place UDP onto galactose to make into glucose. Failure to thrive, liver failure.

49
Q

Galactokinase deficiency

A

Unable to phosphorylate galactose. Thus not kept in the cell, higher amount in blood and urine. Causes cataracts in infants

50
Q

G6-Phosphatase deficiency

A

In PPP. (Rate limiting step). Unable to make NADPH or ribulose5phosphate.

Results in hemolytic anemia. CANT MAKE ATP

51
Q

Pompe Disease (II)

A

Deficiency in lysosomal glycogenolysis (acid Maltese). No free glucose released.

52
Q

Glycogen synthase deficiency (GSD 0)

A

No glycogenesis. No chain elongation.

53
Q

Cori (III)

A

Defective debranching enzyme, glycogenolysis is unable to cleave branches.

54
Q

Anderson (IV)

A

Glucosyl 4:6 transferase is defective. No way to transfer to elongate branches. Affects glycogenesis.

55
Q

McArdle (V)

A

Muscle glycogen phosphorylase is defective. No way to release G1P in glycogenolysis.

56
Q

Hers (VI)

A

Liver glycogen phosphorylase defective. No way to release G1P in glycogenolysis. Unable to regulate blood sugar. Hepatomegaly and growth retardation.

57
Q

Fumarase deficiency

A

In Kreb’s Cycle, fumarase not able to make malate. No malate being made means cycle cannot continue. Extremely fatal. Microencephaly, severe retardation. Can be tested in urine (high levels of fumarate)

58
Q

DNP

A

Uncoupler - loses H+ gradient, no ATP made

59
Q

SOD1 (SuperOxide dismutase)

A

Functions to detoxify hydrogen peroxide. If there is mutation - ALS. Loss of protein activity

MCM Diseases (3 decks)

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