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SFM Diseases > Quiz 1 > Flashcards

Quiz 1 Flashcards

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1
Q

Niemann-Pick Disease

A

Acid Sphingomyelinase (A-Smase) deficiency (lysosomal enzyme)
Accumulation of SM in liver, spleen, CNS, bone marrow.
Causes neurological damage and “cherry red spot” in eye. <18mo.

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2
Q

Erythroblastosis Fetalis

A

Mom: Rh-
Fetus: Rh+
Mom’s antibodies attack fetus.

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3
Q

Spur Cell Anemia

A

Chronic liver dysfunction impairs cholesterol metabolism.
Elevated cholesterol levels bind to RBCs and decrease fluidity. RBCs lose as when passing through capillaries of the spleen causing hemolytic anemia. Prognosis

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4
Q

Cystinuria

A

Defect in transporter of Cystine, Arginine, Lysine, Ornithine (COAL).
Cystine crystal formation in kidneys.
Renal cholic-abd pain that comes in waves

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5
Q

Hartnup Disease

A

Defect in transporter of non-polar, neutral AAs (alanine, valine, threonine leucine, tryptophan!!)
Cerebellar ataxia, nystagmus, tremor, photodermatitis and photosensitivity

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6
Q

Cystic Fibrosis

A

Mutation in CFTR (transmembrane conductance regulator) gene for CFTR Cl- channel.
Cl- buildup inside cell -> increase Na+ -> NaCl -> water influx into cell -> thick mucous in airways, more susceptible to bacterial infections

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7
Q

How much protein, carbs, and fat should one consume in their diet?

A

Protein: 10-35%
Fat: 20-35%
Carbs: 45-65%

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8
Q

Omega 3s

A

Alpha linolenic
DHA
EPA

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9
Q

2-oxoglutaric aciduria (alpha-ketoglutaric acid)

A

Alpha-ketoglutarate dehydrogenase deficiency.
Metabolic acidosis
Severe microencephaly
Mental retardation

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10
Q

Fumarase deficiency

A

Severe neurological impairment. <2yrs

Encephalomyopathy, dystonia, increases excretion of fumarate, succinate, alphaxketoglutarate, citrate

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11
Q

Malonate

A

Inhibits Complex ll of ETC

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12
Q

Amytal, Rotenone, Myxothiazol, Pericidn A

A

Inhibit Complex l of ETC

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13
Q

CO, Cyanide, H2S inhibit…

A

Complex lV of ETC

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14
Q

Oligomycin inhibits…

A

ATP Sythase or Complex V

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15
Q

What is the purpose of the malate-aspartate shuttle?

A

Shuttle H ion from cytosolic NADH into Complex l of ETC in heart, liver, and kidney cells

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16
Q

What is the purpose of the Glycerophosphate shuttle?

A

Shuttle H ion from cytosolic NADH to mitochondrial CoQ in skeletal, muscle, and brain cells

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17
Q

Net yield of glycolysis?

A

2 ATP, 2 NADH, 2 pyruvate

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18
Q

Rate limiting step of glycolysis?

A

Phosphofructokinase 1

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19
Q

Tarui disease

A

Deficiency in PFK-1 (F6P -> F1,6BP)

Exercise-induced muscle cramps and weakness, hemolytic anemia, high bilirubin and jaundice

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20
Q

Fanconi-Bickel Syndrome

A

Mutation in GLUT2 transporter in liver, pancreatic beta cells, enterocytes, renal tubular cells. Unable to uptake Glucose, Galactose, and Fructose. Failure to thrive, hepatomegaly, tubular nephropathy, abd bloating, resistant rickets, fasting hypo, post-prandial hyperglycemia

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21
Q

F 1,6 BP deficiency

A

F 1,6 BP -> F6P in gluconeogensis

Hypoglycemia, lactic acidosis, ketosis, apnea, hyperventilation

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22
Q

Von Gierke diease (GSD1a)

A

G 6-phosphatase deficiency

Glucose can’t escape cell. Fasting hypoglycemia, lactic acidosis, hepatomegaly (glycogen buildup), hyperlipidemis

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23
Q

Glucose -> fructose pathway

A

Glucose to sorbitol via Aldose reductase
Sorbitol to fructose via sorbitol dehrydrogenase.

Sorbitol buildup causes cataracts and peripheral neuropathy

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24
Q

Glucose 1P uridyltransferase (GALT) deficiency

A

Accumulation of galactitol.

Classic galactosemia. Failure to thrive, liver failure, sepsis, bleeding.

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25
Galactokinase deficiency
Nonclassical galactosemia | Galactose and galactitol in urine. Galactitol accumulation leading to infant cataracts
26
Rate limiting step in PPP
G6P dehydrogenase | G6P + NADP+ -> 6-phosphoglucono-lactone + NADPH
27
Rate limiting enzyme in glycogenesis
Glycogen synthase | UDP-glucose -> glycogen chain
28
Rate limiting enzyme in glycogenolysis
``` Glycogen phosphorylase (requires pyridoxal phosphate B6) Glycogen chain -> G1P ```
29
Glycogen synthase deficiency (GSD 0)
Cannot make glycogen. Muscle cramps and fasting hypoglycemia
30
Pompe Disease (GSD ll)
Deficiency in acid Maltese, aka acid alpha glucosidase. Impairs lysosome glycogenolysis leading to glycogen buildup. Myopathy, disrupts heart and muscle function. Heart failure in infancy
31
Cori disease (GSD lll)
Alpha 1,6 glucosidase (debranching enzyme) deficiency. Glycogen with many short branches. Light hypoglycemia and hepatomegaly
32
Andersen Disease (GSD lV)
Glucosyl (4:6) transferase (branching enzyme) deficiency. Long glycogen with few branches. Hepatomegaly, splenomegaly, cirrhosis. <5yrs
33
McArdle Disease (GSD V)
Muscle glycogen phosphorylase deficiency. Rate limiting glycogen breakdown. Exercise intolerance, muscle breakdown, fatigue
34
Hers Disease (GSD VI)
Liver glycogen phosphorylase. Prevents liver glycogen breakdown. Hepatomegaly. Hypoglycemia.
35
Rate limiting enzyme FAS
Acetyl coA carboxylase (biotin cofactor) | Acetyl coA + CO2 -> malonyl coA
36
Enzyme used to construct TAGs
Fatty acyl coA synthetase | FA -> Fatty acyl coA (activates)
37
Enzymes used in first step of TAG breakdown
Hormone sensitive lipase (HSL), adipose triglyceride lipase (ATGL)
38
Purpose of carnitine shuttle
Shuttle fatty acyl coA into mitochondrial matrix where FA oxidation takes place
39
Rate limiting step of fatty acid oxidation
Carnitine palmitoyltransferase l (CPT 1) | Transfers fatty acyl from FA-coA -> carnitine
40
FA oxidation steps
1. Oxidation 2. Hydration 3. Oxidation 4. Thiolysis
41
MCAD deficiency
Impairs MCFA oxidation (breakdown) | FA accumulates in liver. Patients depend on glucose.
42
Essential AAs
Methionine, threonine, histidine, valine, phenylalanine, isoleucine, tryptophan, lysine, leucine
43
Role of ubiquitin
Tags proteins for degradation
44
Exclusively ketogenic AAs
Leucine, lysine
45
Ketogenic and glucogenic AAs
Isoleucine, tryptophan, tyrosine, threonine, phenylalanine
46
Transaminases require which coenzyme
Pyridoxyl-5-phosphate (PLP) (B6) | Ex. ALT, AST
47
Hyperhomocysteinemia, homocystinuria
Causes by vit deficiency (B6-PLP, B12, folic acid) or enzyme defect in Methionine breakdown pathway Atherosclerotic diseases: heart disease, stroke, vascular dementia
48
Maple syrup urine disease
Deficient branched-chain alpha-keto acid dehydrogenase Complex (BCKD) Branched chain ketoaciduria (Valine, Leucine, Isoleucine) <5mo
49
Phenylketonuria (PKU)
Defect in breakdown of Phe via phenylalanine hydroxylase . Phenylacetate and phenylactate buildup. Normally Phe -> Tyr -> fumarate. Supplement patients w/ Tyr
50
Trp derivatives
Serotonin -> melatonin | Niacin -> NAD(P) (needs B6)
51
Tyr derivatives
Dopamine -> norepi-> epi Thyroid hormones Melanin
52
Nitrogen removal in brain via...
Alpha KG -> Glu -> Gln
53
NH4+ removal in muscle
Via transfer of N group to pyruvate making alanine
54
Rate limiting step in urea cycle
Carbamoyl phosphate synthetase (in mito)
55
Creatine made from what AAs
Arg, Gly, Met
56
Rate limiting step of pyrimidine sysnthesis
Formation of carbamoyl aspartate
57
Methotrexate
Prevents NADPH oxidation which disrupts DNA replication
58
“Sulfa” drugs
Competitively inhibits folate synthesis and thus DNA replication in bacteria. (Humans ingest folate, bacteria make their own)
59
Severe combined immunodeficiency (SCID)
ADA deficiency -> High levels of adenosine | Impairs DNA synthesis in B and T cells causing immunodeficiency
60
Gout
Uric acid accumulation. Treated with allopurinol
61
Lesch-Nyhan syndrome
Defects in HGPRT in purine salvage pathway Increased uric acid x6 Purine biosynthesis 200x (PRPP not used in salvage pathway unregulated synthesis pathway
62
Acyclovir
Resembles guanine, becomes incorporated, terminated DNA replication in viruses.

SFM Diseases (1 decks)

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