Boards Boot Camp Comprehensive Flashcards: Segment 10

Front 1

Findings in a child are growth retardation, anorexia, diarrhea, poor wound healing, and dermatitis (hemorrhagic rash around the mucous membranes)

Back 1

Zinc deficient

Front 2

Gallstones in a very young child or adult women whom has not conceived should be suspicious of what?

Back 2

Sickle cell
thalassemia

Front 3

Cholecystitis is d/t 2ndary infection of an obstructed gallbladder from what typical bugs?
EEEK

Back 3

E.coli, Enterobacter cloacae, Enterococcus, Klebsiella spp.

Front 4

What is Charcot's triad for ascending cholangitis?

Back 4

secondary bacterial infection of obstructed common bile duct
jaundice, RUQ pain, fever

Front 5

Unique ADR of this drug is chrysiasis (grey-blue discoloration of the skin)

Back 5

Gold
auranofin or gold sodium thiomalate
anti-inflammatory

Front 6

Patient had chest pain for ~20 minutes that was highly suspicious for an MI. What will his serology be like over the next 72 hours?

Back 6

Myoglobin - first to increase, normal by 24 hours
CK-MB - increases over several hours, peaks at 24 and returns to normal by 28 hours
LDH1 - peaks at 48-72 hours and remain elevated for 7-10 days

Front 7

Dopa, dopamine, Nor/epi, T3/T4, and melanin all have the same precursor, which is?

Back 7

tyrosine

Front 8

serotonin, melatonin, and niacin all have the same precursor ________.

Back 8

tryptophan

Front 9

GABA is derived from _____.

Back 9

glutamate

Front 10

porphyrin ring, heme, and creatine (_______ + arginine)

Back 10

glycine

Front 11

What is the enzyme deficiency in albinism?

Back 11

tyrosinase

Front 12

Enzyme defect in PKU

Back 12

phenylalanine hydroxylase
MR, albino, musty odor

Front 13

enzyme deficiency in alkaptonuria

Back 13

homogentisate oxidase
arthritis, dark urine

Front 14

enzyme deficiency in maple syrup

Back 14

branched chain decarboxylase
hyperreflexia, sweet odor urine

Front 15

enzyme deficiency in homocystinuria

Back 15

cystathione synthase
MR, lens dislocation

Front 16

transporter deficiency in cystinuria

Back 16

dibasic amino acid transporter
urine cystine stones

Front 17

transporter deficiency in Hartnup disease

Back 17

neutral AA transporter
tryptophan deficient-->niacin deficient-->pellegra

Front 18

Clinical picture of Pellagra and possible causes

Back 18

dermatitis, dementia, diarrhea, death
carcinoid syndrome
Hartnup disease
low dietary niacin (B3)

Front 19

What are the two enzymes that convert glucose to glucose-6-phosphate, which cannot leave the cell?

Back 19

hexokinase - muscles
glucokinase - liver

Front 20

enzyme deficiency in fructosuria

Back 20

fructokinase
benign and asx

Front 21

enzyme deficiency in fructose intolerance

Back 21

aldolase B
fructose-1-phosphate accumulates in liver and inhibits glycogenolysis and gluconeogenesis
severe hypoglycemia and liver failure

Front 22

enzyme deficiency in galactosemia

Back 22

uridyltransferase
cataracts and MR

Front 23

enzyme deficiency in type 1 GSD (Von Gierke)

Back 23

glucose-6-phosphatase (G6P->glucose)
liver and kidneys enlarged
fasting hypoglycemia
acidosis
failure to thrive
G-6-P trapped in liver and inhibits glycogen breakdown

Front 24

enzyme deficiency in type II GSD (Pompe)

Back 24

lysosomal alpha-glucosidase
all organs affected
low muscle tone
heart failure
death by age 2
glycogen is continuously degraded by lysosomes, so glycogen accumulates in all organs

Front 25

enzyme deficiency in type V GSD (McArdle)

Back 25

skeletal mm glycogen phosphorylase (glycogen-->glucose-1-phosphate
muscle pain/cramps during exercise
progressive mm weakness

Front 26

enzyme deficiency in Hurler's mucopolysaccharidoses

Back 26

alpha-L iduronidase
corneal clouding, MENTAL RETARDATION

Front 27

enzyme deficiency in Scheie mucopolysaccharidoses

Back 27

alpha-L iduronidase
corneal clouding, NORMAL INTELLECT

Front 28

enzyme deficiency in Hunter's mucopolysaccharidoses

Back 28

iduronate sulfatase
mental retardation

Front 29

the two essential fatty acids

Back 29

linoleic and arachidonic acid
don't give infants skim milk formulas

Front 30

What two bile acids are produced from conjugated bile salts from intestinal flora?

Back 30

deoxycholic acid and lithocholic acid

Front 31

All sphingolidoses are autosomal recessive except for?

Back 31

Fabry disease

Front 32

the following disease are d/t what:
Niemann-Pick
Gaucher
Krabble
metachromatic leukodystrophy
Fabry
Tay-Sachs

Back 32

inborn errors of metabolism that prevent the catabolism of sphingolipids

Front 33

How does Niemann-Pick present and what is the accumulation/deficiency

Back 33

MR, seizures, ataxia, liver and spleen enlargement, death by age 2
foamy cells - cells with excess SP
sphingomyelin/sphingomylelinase

Front 34

How does Gaucher present and what is the accumulation/deficiency

Back 34

liver and spleen enlargement, bone pain, anemia,osteoporosis, affects Ashkenazi Jews
glucocerebrosides/Beta-glucosidase

Front 35

How does Krabble disease present and what is the accumulation/deficiency?

Back 35

Spasticity, hypertonia, blindness, deafness, convulsions, "globoid cells"
galactocerebrosides/Beta-galactosidase

Front 36

How does metachromatic leukodystrophy present and what is the accumulation/deficiency?

Back 36

mental retardation and progressive paralysis
sulfatides/arylsulfatase

Front 37

How does Fabry present and what is the accumulation/deficiency?

Back 37

reddish-purple skin rash
kidney and heart failure
angiokeratoma
globosides/alpha-galactosidase
**globosides accumulate in blood vessels, hence the sxs**

Front 38

How does Tay-Sachs present and what is the accumulation/deficiency?

Back 38

Developmental delay, blindness, cherry red macula, Ashkenazi Jews
gangliosides/hexosaminidase

Front 39

What is the presentation and accumulation in acute/hepatic intermittent porphyria?

Back 39

porphyrias primarily affect the nervous system, resulting in abdominal pain, vomiting, acute neuropathy, muscle weakness, seizures.
porphobilinogen

Front 40

What is the presentation and accumulation in cutaneous porphyria?

Back 40

photosensitivity, blisters, necrosis of the skin and gums, itching, and swelling, and increased hair growth on areas such as the forehead.
No abdominal pain
uroporphyrinogen

Front 41

What is the presentation of coproporphyria and accumulation?

Back 41

purple urine, photosensitivity, and attacks of abdominal pain.
coproporphyrinogen

Front 42

What is the accumulation and presentation in lead poisoning?

Back 42

Delta-ALA protoporphyrin
anemia, basophillic stippling

Front 43

Name the enzyme responsible for the following processes:
lipolysis
fat metabolism
lipid synthesis
cholesterol synthesis

Back 43

lipolysis - carnitine acyltransferase
fat metabolism - hormone sensitive lipase
lipid synthesis - acetyl-CoA carb
cholesterol synthesis - HMG CoA reductase