Diseases-Midterm Flashcards Preview

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Flashcards in Diseases-Midterm Deck (42):
1

lead poisoning (deficiency, presentation, treatment)

-inhibits heme production
-abdominal pain, anemia, impaired nervous system
-chelation with Ca-EDTA with dimercaprol

2

Niemann-Pick Disease (deficiency, what accumulates, typical findings)

-acid sphingomyelinase
-accumulates sphingomyelin
-hepatosplenomegaly and "cherry-red" spot on retina

3

Cystic Fibrosis (deficiency, accumulation, typical findings)

-CFTR deficiency/mutation
-accumulation of Cl- inside the cell --> increased water intake
-thick mucus, trouble breathing, scarring/cysts in pancreas, freq. bacterial infections

4

Cystinuria (deficiency, accumulation, typical findings)

-transporter for dibasic AA's (Arg, Lys, ornithine, cysteine)
-cystine in the renal calyx
-kidney stones --> renal colic

5

Hartnup's Disease (deficiency, accumulation, typical findings)

- transporter for nonpolar, neutral AA's (esp. tryptophan)
-AA in the kidney and intestine
-failure to thrive, nystagmus, ataxia, photosensitivity

6

Wernicke's disorder (deficiency, manifestation)

-Vitamin B1
-ataxia, nystagmus, ophthalmoplegia

7

Korsakoff's disease (deficiency, manifestation)

-Vitamin B1
-psychosis, confabulation

8

Erythroblastosis fetalis

-when an Rh negative mother has a child who is Rh+, the mother's immune system attacks the fetus and can cause spontaneous abortion
-occurs with the second Rh+ fetus

9

Spur Cell Anemia

-elevated cholesterol in the RBC membrane increases rigidity that causes cells to lyse when going through capillaries

10

Rickets

-Vitamin D deficiency leads to brittle bones in children as well as growth deficiency and skeletal deformities

11

Osteomalacia

- similar to rickets but occurs in adults
-brittle bones are observed with many microfractures

12

Scurvy

-vitamin C deficiency
-presents with hemorrhagic spots all over the skin as well as spongy and bleeding gums

13

Fanconi-Bickel syndrome (deficiency, manifestation)

-mutated GLUT2
-fasting hypoglycemia and post-prandial hyperglycemia

14

Tarui disease (GSD VII) (deficiency, manifestation, affected pathway)

-PFK-1 defect
-muscle fatigue, weakness, myopathy
-glycolysis

15

Fructose 1,6-bisphosphatase deficiency (deficiency, manifestation, affected pathway)

-defective Fructose 1,6-bisphosphatase
-hypoglycemia, lactic acidosis, hyperventilation, exercise-induced muscle weakness and cramps
-gluconeogenesis

16

Von Gierke disease (GSDI) (deficiency, manifestation, affected pathway)

-defective G-6 phosphatase
-fasting hypoglycemia and hepatomegaly d/t buildup of glycogen
-Gluconeogenesis/glycogenolysis

17

Sorbitol accumulation (deficiency, manifestation)

deficiency in sorbitol dehydrogenase
- retinopathy and cellular swelling d/t osmotic pressure

18

Fructose intolerance (deficiency)

-aldolase B

19

Galactokinase deficiency (deficiency, manifestation)

-galactokinase
-increased galactitol & galactose accumulation

20

Galactosemia (deficiency, manifestation)

-GALT
-failure to thrive, liver failure, sepsis, bleeding, increased galactitol

21

GSD 0 (deficiency, manifestation)

-glycogen synthase defect
-exercise intolerance, hypoglycemia during sleep, frequent eaters

22

GSD I (name, deficiency, manifestation, affected pathway)

-Von Gierke disease
-defective glucose-6-phosphatase
-fasting hypoglycemia and post-prandial hyperglycemia
-gluconeogenesis & glycogenolysis

23

GSD II (name, deficiency, manifestation, affected pathway)

-Pompe disease
-lysosomal acid maltase
-progressive muscle weakness
-glycolysis

24

GSD III (name, deficiency, manifestation, affected pathway)

-Cori disease
-debranching enzyme
-large number of short branches on glycogen
-glycogenolysis

25

GSD IV (name, deficiency, manifestation, affected pathway)

-Andersen disease
-branching enzyme
-long chain glycogen with few branches --> hepatosplenomegaly, scarring, death
-glycogenesis

26

GSD V (name, deficiency, manifestation, affected pathway)

-McArdle disease
-muscle glycogen phosphorylase
-muscle cramping and myoglobinuria
-glycogenolysis in muscle

27

GSD VI (name, deficiency, manifestation, affected pathway)

-Her's disease
-liver glycogen phosphorylase
-hepatomegaly & hypoglycemia/lethargy
-glycogenolysis in liver

28

Pyruvate dehydrogenase deficiency

-high serum pyruvate can't be converted to acetyl CoA, --> lactic acidosis
-treated with ketogenic diet

29

pyruvate carboxylase deficiency

-can't form OAA from pyruvate--> lactic acidosis
-causes seizures, muscle weakness, ataxia

30

2-Oxoglutaric aciduria (deficiency, manifestation)

-2-oxoglutarate dehydrogenase (a-KG dehydrogenase)
-excessive 2-oxoglutaric acid in the urine
causes massive neurological deficits, metabolic acidosis, and microcephaly

31

Fumarase deficiency

-buildup of fumarate can cause death within 2 years or subacute cases can cause encephalopathy with speech delay
-can eventually cause 2-oxoglutaric aciduria

32

Rotenone poisoning

-inhibits Complex I
-overcome by vitamin K3
-chronic exposure leads to Parkinson's disease

33

Cyanide poisoning

-noncompetitively inhibits complex IV
-leads to rapid cell death
-similar to azide

34

Aspirin overdose

-uncouples the ETC
-causes hyperthermia (similar to brown adipose tissue)
-similar action to DNP

35

Luft's Disease

-first mitochondrial disorder discovered
-uncoupled ox-phos, low levels of CoQ, high cyt-c oxidase (c IV)
-large accumulations of mitochondria

36

MCAD deficiency

-medium chain FAs can't remove carnitine from carnitine-MCFA --> carnitine deficiency
-metabolic acidosis
-elevated nitrogen levels

37

Phenylketonuria (deficiency, manifestation)

-phenylalanine hydroxylase
-"musty" urine odor due to Phe conversion to phenylpyruvate and phenyllactate
-disrupts NTs as well as AA transport

38

Maple syrup urine disease (deficiency, manifestation)

-branched-chain a-keto acid dehydrogenase complex (BCKD)
-branched-chain ketoaciduria, mental retardation
-"sweet" urine odor

39

albinism (deficiency, manifestation)

-tyrosinase
-lack of melanin; photophobia; hypopigmentation

40

Gout (deficiency, manifestation)

-high levels of uric acid in the blood due to overproduction or underexcretion
-swollen joints, arthralgia, kidney damage

41

Lesch-Nyhan syndrome (deficiency, manifestation)

-HGPRT (purine salvage pathway)
-overproduction of uric acid, kidney stones, poor muscle control, mental retardation, self-mutilation

42

Orotic aciduria (deficiency, manifestation)

-UMP synthase
-buildup of orotate in the cell and urine