Metabolism/Endocrine Flashcards

1
Q

Fructokinase converts ____ to _______ in the first step of fructose metabolism. Is this condition benign or serious?

A

Fructose to fructose 1 phosphate, benign

It’s in parked with essential fructosuria and are asymptommatic with incidental fructose in urine

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2
Q

What enzyme is deficient in hereditary fructose intolerance? It converts what to what?

A

Aldolase B

It converts fructose 1,6 bisphosphate to dihydroxyacetone-phosphate

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3
Q

Patient with chronic arthritis and urine that turns dark after several hours most likely has_________ which is a deficiency of what enzyme?

A

Alkaptonuria, homogenistic acid oxidase

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4
Q

In an alcoholic, an elevated _______ ratio can lead to hypoglycemia

A

NADH:NAD+

This makes pyruvate be diverted to lactate and oxaloacetate is diverted to malate which inhibits gluconeogenesis

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5
Q

People with PKU require a diet that is high in _____ and low in ______

A

Tyrosine( because can’t be made when PAH deficient) and low in phenylalanine

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6
Q

vitamin ____ primarily serves to protect fatty acids from oxidation

A

E

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7
Q

In the kidney, parathyroid hormone stimulates wasting of ________ in the proximal tubule and activates _____ channels in the distal convoluted tubule

A

phosphate, Ca

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8
Q

How do glucokinase and hexokinase differ in km and Vmax for glucose

A

Glucokinase has a higher Km and Vmax for glucose and this allows it to better control postprandial glucose levels
-hexokinase has a greater affinity for glucose (lower Km and low Vmax) but can reach its max at lower concentrations

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9
Q

What conditions have psammoma bodies? PSaMMoma

A

papillary adenocarcinoma of the thyroid, Serous papillary cystadenocarcinoma of the ovary, Mesothelioma, Meningioma

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10
Q

Methylmalonic acid and homocysteine are elevated in ______ deficiency. However, only homocysteine is elevated in ______ deficiency

A

vitamin B12, folate

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11
Q

The ________ increased dramatically once B12 therapy is initiated in pernicious anemia (atrophoc gastritis)

A

reticulocyte count: erythrocyte precursors change form megaloblastic to normoblastic and as effective erythropoesis increases–>reticulocytes are released into the bloodstream

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12
Q

An increase in estrogen (pregnancy or post menopausal women on replacement therapy) affects the thyroid in what way?

A

Leads to an increase in thyroid binding globulin which binds T4–> an increase in thyroid hormone until the TBG is saturated, an inc in TBG–> inc in total T4 and T3, however the patient still remains euthyroid with a normal pituitary axis

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13
Q

A woman who just gave birth and presents with panhypopituitarism sx and who can’t lactate leads to? This is typically from _________

A

Sheehan syndrome, ischemic necrosis

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14
Q

Xanthelasmas are commonly found on the eyelid and and contains ________ macrophages. What condition are they associated with?

A

lipid laden, primary biliary cirrhosis or any cause of hypercholesteremia

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15
Q

Graves disease is characterized by _______ antibodies. (predominantly ________).

A

anti-thyrotropin receptor, thyroid stimulating immunoglobulin
-TSI binds the TSH receptor and triggers release of thyroid hormones

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16
Q

Hashimoto’s antibodies are directed against

A

thyroid peroxidase

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17
Q

Hypersecreting adrenocortical tumors have functionality resembling the outer (________), middle (__________), or inner (__________) layers of the adrenal cortex

A

Outer: aldosterone–> HTN, hypokalemic alkalosis (parasthesias and muscle weakness)
Middle: cortisol–> Cushing’s syndrome
Inner: androgens—>excessive hair growth and virilization

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18
Q

Sex hormones initially ______ linear growth but also encourage ______ of the epiphyseal growth plates

A

encourage, closure

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19
Q

Gigantism have excessive heights compared to people with excess estrogens because

A

IGF-1 doesn’t lead to premature closure of the epiphyseal plates

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20
Q

TZDs activate ______ and how do they affect insulin?

A

PPAR-gamma, and dec insulin resistance by

  • inc adiponectin (inc number of insulin responsive adipocytes and stimulates fatty acid oxidation)
  • inc GLUT4: inc glucose uptake by skeletal myocytes and adipocytes
  • dec leptin
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21
Q

RET protoncogene receptor codes for what kind of receptor

A

tyrosine kinase

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22
Q

Side effects of androgen abuse

A

acne, testicular atrophy, inc hematocrit, cliteromegaly, gynecomastia

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23
Q

Leuprolide causes a transient ____ in testosterone but eventually ___ testosterone levels. How are DHT levels then affected?

A

inc, dec DHT dec when there’s less testosterone to convert to DHT

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24
Q

If see a patient with renal stones, neck surgery think? If also clumsy and bitemporal hemonopsia in a man? So also want to check for?

A

parathyroid (hypercalcemia), pituitary tumor, pancreatic tumor B/C OF MEN SYNDROME

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25
Q

cysteinuria is a defect in which 4 amino acids

A

COLA
cysteine, ornithine, lysine, arginine
-impaired renal tubular absorption of these leads to high urinary cysteine concentration–>cysteine kidney stones

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26
Q

pituitary apoplexy can prevent with ________ and signs of meningeal irritation. Pt.s often have chronic symptoms associated with the underlying _____

A

sudden severe headache, pituitary tumor (low libido, bitemporal hemianopsia)
“panhypopituitarism”

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27
Q

Women with prolactinoma and amenorrhea, what is a big side effect

A

prolactin INHIB GnRh–>dec bone mass b/c of dec estrogen

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28
Q

Treatment of CAH involves low dose _______

A

exogenous corticosteroids to suppress excessive ACTH stimulation of adrenal cortex and androgens

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29
Q

Aldosterone excess from an adrenal tumor (Conn’s) can be treated by what?

A

surgery, eplerenone (aldosterone antagonist)

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30
Q

How does giving T3 for hypothyroid affect TSH, T4, reverse T3, T3?

A

dec TSH, dec T4 and T3(inactive form from T4), inc T3

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31
Q

Path of which thyroid problem: mononuclear infiltrate of lymphocytes and plasma cells often with germinal centers

A

Hashimoto’s thyroiditis

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32
Q

extensive fibrosis in the thyroid gland

A

Riedel’s thyroiditis

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33
Q

which thyroid problem: mixed cellular infiltrate with occasional multinuclear giant cells. Typically present after viral URI and symptoms of hyperthyroidism

A

Subacute (de Quervain)

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34
Q

________ is associated with marfanoid habitus, intellectual disability, and DOWNward dislocation of lens

A

homocystinuria

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35
Q

Marfan syndrome is assoc. with _______ dislocation of the lens

A

upward

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36
Q

The enzymes responsible for ______, ________, and _________ occur in the cytosol

A

glycolysis, fatty acid synthesis, pentose phosphate pathway

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37
Q

Erythrocytes lack mitochondria and are unable to use ______ for energy

A

ketones

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38
Q

________ disease presents with ______ accumulation in the lysosomes (PAS positive) and hypotonia, cardiomegaly. What enzyme is defective?

A

Pompe, glycogen, alpha-glucosidase

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39
Q

_______ phosphorylase deficiency presents with weakness and fatigue with exercise, no rise in blood lactate

A

glycogen phosphorylase (McArdle)

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40
Q

_________ deficiency presents with hepatomegaly, ketotic hypoglycemia, hypotonia/weakness, abnormal glycogen with v short outer chainsq

A

debranching enzyme (Cori)

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41
Q

_________ deficiency presents with hepatomegaly, steatosis, fasting hypoglycemia, lactic acidosis, hyperuriciemia, hyperlipidemia

A

glucose 6 phosphatase (von Girke)

42
Q

glitazones are what class of diabetes drugs and act how

A

TZDs: affect transcription modulation of PPAR-gamma and inc GLUT4 and adiponectin

43
Q

Insulin ___ glucose uptake, ___glycogen synthesis, ___glucagon secretion, ___lipolysis, ___ protein synthesis

A

increases glucose uptake, increases glycogen synthesis, decreases glucagon secretion, decreases lipolysis, increases protein synthesis

44
Q

________ and _______ are specific key features of Graves disease. Caused by thyrotropin receptor antibodies what deposit in the affected tissues

A

Pretibial myxedema, ophthalmopathy

45
Q

GLP-1 agonists are secreted by intestinal ___ cells in response to food intake. It dec blood glucose by ___ satiety, ____ gastric emptying, _____ insulin release from beta cells

A

L, inc satiety, dec gastric emptying, inc insulin release

exenatide, liraglutide

46
Q

Sulfonylureas and meglitinides bind to the regulatory subunits of the ATP dependent ____ channel on pancreatic beta cells causing membrane depolarization and an influx of __. This influx triggers _____ release

A

potassium, Ca, insulin

repaglinide, nateglinide

47
Q

______ activate PPAR alpha and are the MOST effective at dec triglyceride levels. What are 2 major side effects

A

fibrates (gemfibrozil, bezafibrate, fenofibrate)

-gallstones (via inhib cholesterol 7-alpha hydroxylase, inc myopathy w/ statins)

48
Q

______ decreased intestinal cholesterol reabsorption

A

ezetimbe

49
Q

_______ prevent the reabsorption of bile acids in the intestine. What are side effects?

A

bile acid sequestrates (cholestyramine, colestiopol, colsevelem), dec absorption of fat soluble vitamins, GI upset

50
Q

_______ inactivate LDL receptor degradation. Side effects?

A
PCSK9 inhibitors (alirocumab, evolocumab)
-myalgias, delirium
51
Q

Thioamides(______,_______) dec the formation of thyroid hormones via inhibition of _______. _____ also dec the peripheral conversion of T4 to T3

A

(methimazole, PTU) thyroid peroxidase (this is responsible for iodine organification, and coupling of iodotyrosines), propylthiouracil

52
Q

Glifozins are ______ and need to check _____ function before starting

A

SGLT2 inhibitors, renal–> lead to inc risk of UTI b/c of inc urinary glucose loss

53
Q

chronic glucocorticoid use can lead to ___ liver protein synthesis, ______ of the adrenal cortex

A

inc=gluconeogenesis, atrophy,

54
Q

insulin secreting pancreatic beta cells have __2 and __2 receptors

A

alpha2, beta2

-stimulating beta 2 activates insulin

55
Q

Calcium sensing receptors are _______ receptors that regulate PTH secretion. Familial hypocalciuric hypercalcemia is a AD disorder with defective receptors. Binding of Ca to CaSR leads to _______ of PTH release

A

G protein coupled, inhibition

56
Q

Delayed eye droop in hyperthyroid is from excessive _______

A

sympathetic stimulation

57
Q

Antibodies to thyroid peroxidase (TPO) are found in which thyroid disease? What does this effect

A

Hashimotos thyroiditis, TPO catalyzes the oxidation of iodine to iodine, the iodination of thyroglobulin tyrosine residues, and the iodotyrosine coupling reaction that forms T3 and T4 (so its destroying T3 and T4)

58
Q

Lenticular accumulation of ______ in patients with _______ can lead to cataract

A

galactitol, galactosemia

59
Q

________ are caused by defect in linea alba and present as protrusions at the umbilicus that are soft and the umbilicus is at the center of the protrusion

A

umbilical hernias

60
Q

Long standing ulcerative colitis has an ____ risk of colon cancer. ____ and ______ are most significant risk factors. Compared to the general population, these are likely to be multifocal in nature, develop early _____ mutations and late _____mutations

A

inc, duration, extent, p53, APC

61
Q

Ras protein is bound to _____ when active and this activates ________ to enter the nucleus and affect gene transcription

A

GTP, MAPK (mitogen activated protein kinase)

62
Q

_________ is a well known ulcerative colitis complication that presents with abdominal pain, distention, blood diarrhea. Diagnose with?

A

toxic megacolon, abdominal x ray

63
Q

internal hemorrhoids drain into the _________ that communicates with the _________ vein

A

superior rectal, inferior mesenteric

64
Q

external hemorrhoids drain into the ______ vein then to the ______ vein which communicates to the _______

A

inferior rectal, internal pudendal, internal iliac

65
Q

ulcerative colitis has ______ muscosal invovlement

A

continuous

66
Q

porcelain gallbladder is at inc risk for what cancer. What does the gallbladder look like?

A

gallbladder adenocarcinoma

-chronic cholecystitis (enlarged gallbladder with gallstones)

67
Q

Hereditary hemochromatosis is caused by the _____ gene and leads to _____ intestinal absorption of iron

A

HFE, inc

68
Q

thyroid with nuclear grooves

A

papillary carcinoma

69
Q

thyroid with mixed cellular infiltration of multi-nucleated giant cells

A

subacute (de quarvains thyroiditis)

-typ after viral illness

70
Q

thyroid with extensive stromal fibrosis extending beyond thyroid capsule

A

riedel thyroiditiis

71
Q

thyroid with mononuclear, parenchymal infiltration with well developed germinal centers

A

hashimoto’s thyroiditis

72
Q

Glucocorticoid therapy leads to ___ CRH, ___ ACTH, ____ cortisol

A

dec, dec, dec

73
Q

How does a glucagonoma present?

A

hyperglycemia, inc glucagon, necrolytic migratory erythema (coascleing erythematous plaques with crusting)

74
Q

How to test for diabetes?

A

fasting blood glucose >126

-oral glucose tolerance test is for gestational diabetes

75
Q

Due to the failure of ________ the thyroid an appear in excess tissues

A

migration

76
Q

administration of metyrapone will lead to a ________ surge and _____ in 17-OH hydroxycorticosteroid

A

ACTH, inc

77
Q

GLUT 4 is an insulin _______ receptor and is present in _______ and _______. How does it work?

A

sensitive, adipocytes, skeletal muscle
-in the absence of insulin, it is sequestered in the cytoplasm and as insulin concentrations rise, the receptors translocate to the plasma membrane, facilitating glucose transport into the cell

78
Q

GLUT 2 is present in which 4 places?

A

hepatocytes, pancreatic beta cells, basolateral renal tubule, small intestine mucosa

79
Q

______ contributes to basal glucose transport in RBCs and the blood brain barrier

A

GLUT-1

80
Q

GLUT-5 is a _______ transporter found in spermatocytes and the GI tract

A

fructose

81
Q

Intracellular receptors that bind steroids, thyroid hormone, and fat soluble vitamins can have ________ motifs

A

zinc finger

82
Q

pheochromocytoma sx can be episodic in nature: true or false

A

true b/c of fluctuations in secretions by the tumor

83
Q

All steroid producing cells contain a well developed?

A

smooth endoplasmic reticulum

84
Q

Ketone bodies _____ be used to synthesize glucose

A

CANNOT

85
Q

After 12-18 hours of fasting ________ becomes the principal source of blood glucose

A

gluconeogenesis

86
Q

Corticosteroids ______ neutrophil count because of demarginiation from the wall and ______ basophil, lymphocyte, eosinophil, and monocyte counts

A

inc, dec

87
Q

Niacin can precipitate attacks of ______ because it _____ renal excretion of uric acid

A

gout, dec

88
Q

cells from neural crest tissue: MOTEL PASS

A

Melanocytes, Odontoblasts, Tracheal cartilage, Enterochromaffin cells, Laryngeal cartilage, Parafollicular cells of thyroid, Adrenal medulla, Schwann cells, Spiral membrane

89
Q

succinate dehydrogenase depends on which vitamin

A

riboflavin=FAD

90
Q

High levels of calcitonin ________ its receptor

A

down regulates

91
Q

Lactrophs also express ____ receptors and this stimulates the release of prolactin

A

TRH

92
Q

Injury to the thyroid gland during surgery can damage the __________ and lead to hypo_______

A

parathyroid glands, hypocalcemia

93
Q

child presents with painless retroperitoneal mass that cross midline and shows ganglion and primitive round cells occasionally in rosettes and what gene associated?

A

neuroblastoma, MYCN

-may have elevated HVA (worse prognosis)

94
Q

differentiate films tumor and neuroblastoma

A

wilms tumor is a nephroblastoma and is assorted with WAGR syndrome and is deletion of WT1 gene and pt.s present with hematuria and hypertension and mass DOESNT cross midline (small blue cells with scant cytoplasm)
-neuroblastoma crosses midline and is asymptomatic

95
Q

See black urine or stains on diaper, underwear think? What is a major long term consequence

A

Alkaptonuria, ochronotic osteoarthopathy (pigment deposition in joints)

96
Q

Maturity onset diabetes of the young is due to disorders of the _______ gene

A

glucokinase

-can lead to dec regulation of post prandial glucose

97
Q

insulin _______ protein synthesis, ______ glucagon secretion, _____ lipolysis, ______ glycogen synthesis

A

inc, dec, dec, inc

98
Q

Insulin is stored in _______ until cleaved

A

secretory granules, so if problem with post translational processing would be after this point

99
Q

During fasting triglycerides are initially broken down into _______ and _______ by the enzyme ________ and this allows for glucose and ketone formation

A

glycerol, fatty acids, hormone sensitive lipase

100
Q

Phosphorylation of _________ residues can lead to insulin deactivation and can be induced by?

A

serine and threonine

-TNF-alpha, catecholamines, glucagon, glucocorticoids

101
Q

triad of zinc deficiency

A

skin lesions: perioral, perianal, delayed wound healing, hypogonadism, dec hair distribution

102
Q

How does Cushing’s syndrome affect bones and calcium, PTH, Phos

A

cortisol dec intestinal Ca reabsorption

dec Ca, dec Phos, inc PTH