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Deck of Secret Knowledge > Biochem: Diseases > Flashcards

Biochem: Diseases Flashcards

1
Q

Amino Acid Metabolism
No cystathionine synthase
Myocardial infarction, lens dislocation, osteoperosis

A

Homocystinuria

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2
Q

Amino Acid Metabolism
No homogentisate oxidase
Arthritis, black onchronotic pigments in cartilage, urine
Tx low protein diet

A

Alkaptonuria

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3
Q

Amino Acid Metabolism
High levels of valine, leucine and isoleucine in blood
Neuro problems, METAB acidosis
Tx with diet restriction, some with thiamin

A

MSUD

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4
Q

Amino Acid Metabolism

THE MOST COMMON CLINICALLY ENCOUNTERED INBORN ERROR OF AMINO ACID METAB

A

PKU

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5
Q

Amino Acid Metabolism
Dihydrobiopterine reductase deficiency
Mousey odor, hypopigmentation
Tx with diet restriction, supplement with BH4

A

PKU

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6
Q

Heme Metabolism

Differentiate Acute Intermittent Porphyria from Porphyria Cutanea Tarda

A

No photo sensitivity in PCT
Urine turns dark on sunlight with AIP
AIP: Uroporphyrinogen I synthase
PCTL Uroporphyrinogen III decarboxylase

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7
Q

Heme Metabolism

IV drug to alleviate acute porphyria attacks

A

Hemin

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8
Q

Heme Metabolism

Rate controlling step in synthesis

A

Formation of ALA from glycine and Succinyl-CoA via the ALA synthase enzyme (requiring B6 as a co-factor)

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9
Q

Heme Metabolism

2 enzymes inhibited by Lead

A

Ala synthase and ferrochelataas (for iron incorporation)

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10
Q

Nucleotide Metabolism
No HGPRT
EXCESS uric acid, gout
Involuntary movt disorders

A

Lesch-Nyhan syndrome also with self mutilation

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11
Q

Nucleotide Metabolism

Which nucleic acids lead to gout?

A

Purines only (Adenine and Guanine)

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12
Q

Nucleotide Metabolism
Large buildups of dATP
Die before 2 years of age
Lack of T and B cells

A

ADA deficiency which also leads to SCID.

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13
Q 
Electron Transport Chain
What is inhibited by:
Cyanide
Carbon monoxide 
Na azide
Hydrogen sulfide
A

Cytochrome oxidase

Complex 4

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14
Q

Electron Transport Chain
What is inhibited by:
Dimercaprol
Antimycin a

A

Complex III: ubiquinone ferricytochrome

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15
Q 
Electron Transport Chain
What is inhibited by:
Carboxin
Malonate
TTFA
A

Complex II: Succinate dehydrogenase

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16
Q 
Electron Transport Chain
What is inhibited by:
Barbiturate
Amytal
Piercedin 
Roten
Piercidin A
A

Complex I: NADH Dehydrogenase

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17
Q

Electron Transport Chain
What is inhibited by:
MELAS

A

Complex 1 NADH dehydrogenase

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18
Q

Electron Transport Chain
What is inhibited by:
Leigh disease

A

Complex 4 cytochrome oxidase

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19
Q

Electron Transport Chain
What is inhibited by:
Leber’s disease

A

Complex 3 ubiquinol ferricytochrome oxidase

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20
Q

Glycogen Storage Diseases
Hypoglycemia and lactic acidosis
Glycogen trapped in liver
(-) glucose 6 phosphatase

A

I: Von gierke

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21
Q

Glycogen Storage Diseases
Glycogen in lysosomes
Cardiomegaly and heart failure
(-) a-1,4 glucosidase (acid maltase)

A

II: Pompe

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22
Q

Glycogen Storage Diseases
Benign form of Von Gierke
(-) a-1,6 glucosidase (debranching enzyme)

A

III: Cori’s

IV: Andersen’s is the SEVERE form of 1 with NO branching enzyme

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23
Q

Glycogen Storage Diseases
Muscle cramps
MYOGLOBINURIA WITHOUT LACTIC ACIDOSIS
(-) skeletal muscle glycogen phosphorylase / myophosphorylase

A

V: McArdle

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24
Q

Glycogen Storage Diseases

McArdle twin with hemolytic anemia

A

Type 7 Tarui

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25
Q

Carbohydrate Metabolism

What enzymes are missing in Classic Galactosemia and Fructose intolerance?

A

Classic Galactosemia: Gal 1 phosphate uridyltransferase

Fructose Intolerance: Aldolase B

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26
Q

Fatty Acid Oxidation
Hypoglycemia
SIDS
Tx IV glucose

A

Medium chain fatty acyl coa dehydrogenase

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27
Q

Fatty Acid Oxidation
Akee tree, hypoglycin
Hypoglycemia

A

Jamaican vomiting sickness

28
Q

Fatty Acid Oxidation
Phytanic acid buildup
Block beta oxidation
NEURO sxs sec to improper myelinization

A

Refsum’s disease

29
Q

Fatty Acid Oxidation
Cerebrohepatorenal syndrome
NO peroxisomes to degrade VLCFA

A

Zellweger’s syndrome

30
Q

Fatty Acid Oxidation
DEFECTIVE peroxisomes unable to degrade VLCFA
Adrenal insufficiency

A

X linked adrenoleukodystrophy

31
Q

Dyslipidemias
NO app B48 and B100
Intestinal malabsorption, steatorrhea
Acanthosis

A

Abetalipoproteinemia

32
Q

Dyslipidemias
INCREASED VLDL
CAD, DM T2, Obesity

A

T4 familial hypertriglyceridemia

33
Q

Dyslipidemias
INCREASED RISK FOR ATHEROSCLEROSIS AND CAD
NO apo E
Aka Remnant removal disease

A

T3 familial dysbetalipoprotenemia

34
Q

Dyslipidemias
INCREASED RISK FOR ATHEROSCLEROSIS AND CAD
xanthomas
NO LDL receptors

A

T2 Familial hypercholesterolemia

35
Q

Dyslipidemias
NO INCREASED RISK FOR ATHEROSCLEROSIS AND CAD
xanthomas pancreatitis
NO lipoprotein lipase

A

Type 1 familial lipoprotein lipase

36
Q

Dyslipidemias
NO Apo a1 (lack of ABC1 cholesterol transporter gene) = Cholesterol accumulates within the cells
Pathognomonic orange tonsils
HIGH TG

A

Tangier’s/ fisheye disease

37
Q

Sphingolipidoses
Hepatosplenomegaly with erosion of long bones
No B-glucosidase

A

Gaucher’s disease

38
Q

Sphingolipidoses
Hepatosplenomegaly
Increased sphingomyelin

A

Niemann-Pick disease

39
Q 
Sphingolipidoses
Increase GM2 ganglioside
No hexaminidaae A
Cherry red macula
MR hypotonia
A

Tay Sach’s disease

40
Q

Sphingolipidoses
Rash
Renal failure
No alpha galactosidase

A

Fabry’s disease

Only X-linked recessive others autosomal

41
Q 
Sphingolipidoses
Skin rash
Hoarseness
Bone malformation
NO ceramidase
A

Farber’s dz

42
Q 
GAGS
Corneal clouding
Cardiomyopathy
MR w/ gargoylism
Onset age: 1, Death by age: 14
A

Type 1 Hurler’s syndrome

43
Q

GAGS
NO corneal clouding
Cardiomyopathy
MR

A

Type 2 HUNTER’s syndrome

The only one X linked recessive
Others are all autosomal recessive

44
Q

GAGS
NO MR
Skeletal dysplasia with short stature
Death due to atlanto-axial instability

A

Type 4 Morquio’s syndrome

The ONLY ONE WITHOUT MR!

45
Q 
GAGS
Spasticity then loss of motor fxn
MR
Hyperactivity
Loss of heparan sulfatase
A

Type 3 Sanflippo syndrome

46
Q

Genetics
What is the usual genetic problem in enzyme defects?
Structural protein defects?

A

Recessive (x linked or autosomal)

Dominant

47
Q

Genetics

Name common dzs with x linked inheritance

A 
Duchenne muscular dystrophy
Hemophilia A and B
Chronic granulomatous dz
G6PD Deficiency
Agammaglobulinemia
Wiskott Aldrich
DI
Lesch-Nyhan 
Fragile X
Color blindness
48
Q 
Collagen
Which type is defective in osteogenesis imperfecta?
Late wound repair
Cornea
Fascia
Dentin
Bone
A

1

49
Q

Collagen
Which type is defective in alport syndrome?
Basement membrane

A

4

49
Q

ETC

Complex 5 is inhibited by?

A

Oligomycin

50
Q 
Collagen
Which type is defective in ehler danlos?
Granulation tissue
Fetal tissue
Uterus
Skin
Blood vessels
A

3

Type 2: cartilage, vitreous body, nucleus pulposus

52
Q

BLOOD

What characteristic morphology is present in patients with G6PD deficiency?

A

Bite cells and Heinz bodies

53
Q

DNA Repair Mechanisms
Ineffective Nucleotide Excision Repair - bulky thymine dimers
cannot tolerate sunlight
at risk for malignant melanoma, SCCA, BCCA, and fibrosarcoma

A

Xeroderma pigmentosum

Tx: 5-FU, Imiquimod

54
Q

DNA Repair Mechanisms
DNA repair defect + Bone marrow failure
Cafe-au-lait spots
Susceptible to free radical damage

A

Fanconi Anemia

55
Q

DNA Repair Mechanisms
Nucleotide excision repair defect, no risk for skin malignancies
Birdlike facies and dwarfism
Accelerated aging of cells

A

Cockayne syndrome

56
Q

DNA Repair Mechanisms
Unstable genome
Progressive neurologic dysfunction, ataxia, sinopulmonary infections, telangiectasia

A

Ataxia-Telangiectasia

57
Q 
DNA Repair Mechanisms
Mismatch DNA repair defect
Prone to microsatellite instability
80% chance for Colon cancer
30-50% chance for type 3 Endometrial Cancer
A

HNPCC (Lynch syndrome)

58
Q

DNA Repair Mechanisms
Higher frequency of p53 mutations
Disposition toward serous adenocarcinomas
60-80% Breast cancer risk
Risk for prostate, ovarian, and pancreatic CA

A

Hereditary Breast Cancer (BRCA1 or BRCA2)

59
Q

DNA Repair Mechanisms
Helicase defect = genomic instability
Growth delay, increased risk of various malignancies by 300 fold, telangiectatic erythema

A

Bloom Syndrome

60
Q

DNA Repair Mechanisms
Helicase defect
Scleroderma like skin, muscle atrophy, wrinkling of face, cataracts, osteoporosis.
aka Progeria of the Adult

A

Werner Syndrome

61
Q

Collagen Diseases
Vit. C deficiency
weakening of the capillaries

A

Scurvy

62
Q 
Collagen diseases
Brittle bones
Blue sclerae
Hearing loss
Dental imperfections
A

Osteogenesis Imperfecta

63
Q

Amino Acid Metabolism

Deficiency in tyrosinase

A

Albinism

64
Q

Bilirubinemias

Defect in bilirubin-UGT

A

Criggler-Najar Type 1

65
Q

Nucleotide Synthesis
Megaloblastic anemia, failure to thrive, (-) hyperamonemia
Tx: Oral uridine administration

A

Orotic aciduria

66
Q

Chronic granulomatous disease is due to deficiency in?

A

NADPH oxidase

Molecular oxygen NOT converted to superoxide in leukocytes

Deck of Secret Knowledge (57 decks)

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