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SFM Diseases > Quiz 1 > Flashcards

Quiz 1 Flashcards

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
Q

Galactokinase deficiency

A

Nonclassical galactosemia

Galactose and galactitol in urine. Galactitol accumulation leading to infant cataracts

26
Q

Rate limiting step in PPP

A

G6P dehydrogenase

G6P + NADP+ -> 6-phosphoglucono-lactone + NADPH

27
Q

Rate limiting enzyme in glycogenesis

A

Glycogen synthase

UDP-glucose -> glycogen chain

28
Q

Rate limiting enzyme in glycogenolysis

A 
Glycogen phosphorylase (requires pyridoxal phosphate B6)
Glycogen chain -> G1P
29
Q

Glycogen synthase deficiency (GSD 0)

A

Cannot make glycogen. Muscle cramps and fasting hypoglycemia

30
Q

Pompe Disease (GSD ll)

A

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
Q

Cori disease (GSD lll)

A

Alpha 1,6 glucosidase (debranching enzyme) deficiency. Glycogen with many short branches. Light hypoglycemia and hepatomegaly

32
Q

Andersen Disease (GSD lV)

A

Glucosyl (4:6) transferase (branching enzyme) deficiency. Long glycogen with few branches. Hepatomegaly, splenomegaly, cirrhosis. <5yrs

33
Q

McArdle Disease (GSD V)

A

Muscle glycogen phosphorylase deficiency. Rate limiting glycogen breakdown. Exercise intolerance, muscle breakdown, fatigue

34
Q

Hers Disease (GSD VI)

A

Liver glycogen phosphorylase. Prevents liver glycogen breakdown. Hepatomegaly. Hypoglycemia.

35
Q

Rate limiting enzyme FAS

A

Acetyl coA carboxylase (biotin cofactor)

Acetyl coA + CO2 -> malonyl coA

36
Q

Enzyme used to construct TAGs

A

Fatty acyl coA synthetase

FA -> Fatty acyl coA (activates)

37
Q

Enzymes used in first step of TAG breakdown

A

Hormone sensitive lipase (HSL), adipose triglyceride lipase (ATGL)

38
Q

Purpose of carnitine shuttle

A

Shuttle fatty acyl coA into mitochondrial matrix where FA oxidation takes place

39
Q

Rate limiting step of fatty acid oxidation

A

Carnitine palmitoyltransferase l (CPT 1)

Transfers fatty acyl from FA-coA -> carnitine

40
Q

FA oxidation steps

A
  1. Oxidation
  2. Hydration
  3. Oxidation
  4. Thiolysis
41
Q

MCAD deficiency

A

Impairs MCFA oxidation (breakdown)

FA accumulates in liver. Patients depend on glucose.

42
Q

Essential AAs

A

Methionine, threonine, histidine, valine, phenylalanine, isoleucine, tryptophan, lysine, leucine

43
Q

Role of ubiquitin

A

Tags proteins for degradation

44
Q

Exclusively ketogenic AAs

A

Leucine, lysine

45
Q

Ketogenic and glucogenic AAs

A

Isoleucine, tryptophan, tyrosine, threonine, phenylalanine

46
Q

Transaminases require which coenzyme

A

Pyridoxyl-5-phosphate (PLP) (B6)

Ex. ALT, AST

47
Q

Hyperhomocysteinemia, homocystinuria

A

Causes by vit deficiency (B6-PLP, B12, folic acid) or enzyme defect in Methionine breakdown pathway
Atherosclerotic diseases: heart disease, stroke, vascular dementia

48
Q

Maple syrup urine disease

A

Deficient branched-chain alpha-keto acid dehydrogenase Complex (BCKD)
Branched chain ketoaciduria (Valine, Leucine, Isoleucine)
<5mo

49
Q

Phenylketonuria (PKU)

A

Defect in breakdown of Phe via phenylalanine hydroxylase . Phenylacetate and phenylactate buildup. Normally Phe -> Tyr -> fumarate. Supplement patients w/ Tyr

50
Q

Trp derivatives

A

Serotonin -> melatonin

Niacin -> NAD(P) (needs B6)

51
Q

Tyr derivatives

A

Dopamine -> norepi-> epi
Thyroid hormones
Melanin

52
Q

Nitrogen removal in brain via…

A

Alpha KG -> Glu -> Gln

53
Q

NH4+ removal in muscle

A

Via transfer of N group to pyruvate making alanine

54
Q

Rate limiting step in urea cycle

A

Carbamoyl phosphate synthetase (in mito)

55
Q

Creatine made from what AAs

A

Arg, Gly, Met

56
Q

Rate limiting step of pyrimidine sysnthesis

A

Formation of carbamoyl aspartate

57
Q

Methotrexate

A

Prevents NADPH oxidation which disrupts DNA replication

58
Q

“Sulfa” drugs

A

Competitively inhibits folate synthesis and thus DNA replication in bacteria. (Humans ingest folate, bacteria make their own)

59
Q

Severe combined immunodeficiency (SCID)

A

ADA deficiency -> High levels of adenosine

Impairs DNA synthesis in B and T cells causing immunodeficiency

60
Q

Gout

A

Uric acid accumulation. Treated with allopurinol

61
Q

Lesch-Nyhan syndrome

A

Defects in HGPRT in purine salvage pathway
Increased uric acid x6
Purine biosynthesis 200x (PRPP not used in salvage pathway unregulated synthesis pathway

62
Q

Acyclovir

A

Resembles guanine, becomes incorporated, terminated DNA replication in viruses.

SFM Diseases (1 decks)

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