Diseases and Disorders Exam 5 Flashcards
(35 cards)
1
Q
Carnitine Deficiency
A
- primary disorder d/t faulty plasma membrane carnitine transporter
- secondary disorder d/t faulty plasma membrane carnitine transporter
- age of onset varies b/w 1 month and 7 years
- sx: hypoketonic hypoglycemia, skeletal myopathies, cardiomyopathies, encephalomegaly, hepatomegaly
2
Q
CPT I Deficiency
A
- primarily affects fatty acid synthesis in the liver *
- sx present after a period of fasting or GI illness
- sx: hypoglycemia and hypoketosis, lethargy, seizures, and coma
3
Q
CPT II Deficiency
A
- sx start soon after puberty
- recurrent myalgia and muscle stiffness
- rhabdomyolosis
- sx exacerbated after prolonged exercise, stress, infections, fasting
4
Q
MCAD Deficiency
A
- mosst frequently diagnosed of the FA oxidation disorders
- impaired oxidation of medium chain FAs
- onset usually between 2nd month and 2nd yr, following a period of prolonged fasting
- sx: profound fasting hypoglycemia, low to no ketones, hepatomegaly, dicarboxylic acidemia, vomiting, lethargy, muscle weakness, coma
- can be cause of SIDs death
5
Q
Zellweger Syndrome
A
- peroxisomal disorder
- lack of peroxisomal biosynthesis
- accumulation of VLCFAs and branched chain FAs d/t defective oxidation
- defective production of ether-phospholipids and plasmalogens
6
Q
Adrenoleukodystrophy
A
- peroxisomal disorder
- accumulation of VLCFA d/t defective peroxisomal oxidation
7
Q
Refsum’s Disease
A
- peroxiomal disorder
- defect in alpha-oxidation d/t mutation in phytanoyl-CoA hydroxylase
- sx caused by accumulation of phytanic acid in the blood and tissue
- beta-oxidation blocked by methyl group
- seen more in vegetarians
8
Q
Fatty Liver Disease
A
- alterations in mitochondiral beta-oxidation which leads to an accumulation of TGs in the liver -> steatosis
- causes: alcoholism, DM, obesity, Reye’s
9
Q
Jamaican Vomiting Sickness
A
- consumption of unripe fruit from ackee tree whihc contains a toxin hypoglycin that inhibits both medium and short chain acyl-CoA dehydrogenase and inhibits beta-oxidation
- major sign: nonketonic hypoglycemia
10
Q
DKA
A
- reduced cellular glucose d/t low insulin and increased FA breakdown
- ketone body prodution exceeds ability of tissue to oxidize them
- lower blood pH
- early sx: polydipsia, polyurination, weight loss, lethargy, fruity breath, mental changes, muscle wasting
- late sx: loss of appetite, extreme weakness and lethargy, vomiting, abdominal pain, flu-like sx, confusion, coma
11
Q
Type I Diabetes
A
- caused by autoimmune destruction of beta-cells
- pancreas cannot make insulin
- blood sugar rises as can not be taken into cells
- glucose excreted in urine along with water -> always feel hungry and thirsty
12
Q
Type II Diabetes
A
- usually in older people who are overweight but can have a genetic component
- pancreas produces insulin but body cannot use it -> insulin resistance
- high blood sugar
13
Q
How do aspirin and NSAIDs work?
A
- block prostaglandin and thromboxane synthesis by inhibiting Cox in the pathway
- inhibits TXA2 production and blood clotting
- decreases swelling
14
Q
How can drugs target eicosanoid synthesis to improve asthma and allergies?
A
- lipogenase pathway
- can inhibit 5-lipoxygenase to block produciton of LTB4 and 5HETE
- work as antagonsists to the LTC, LTD and LTE receptors
15
Q
How do steroids work?
A
- inhibit PLA2 activity which blocks arachidonic acid mobilization
- they are stong inhibitors that block synthesis of prostaglandins, thromboxanes and leukotrienes
- good for chronic inflammatory diseases
16
Q
Niemann-Pick Diease
A
- deficiency of sphingomyelinase
- accumulation of sphingomyelin in the brain and blood
- sx: mental retardation, spasiticity, seizures, ataxia and death by age 3
17
Q
Gaucher Disease
A
- deficiency in glucocerebrosidase
- accumulation of glucocerebrosides in the blood, liver and spleen
- onset teens - 20’s
- sx: hepatomegaly and splenomegaly, low platelet count, easy bruising, anemia, wrinkled paper cytoplasm
18
Q
Tay-Sachs Disease
A
- deficiency in hexosaminidase A
- accumulation of GM2 gangliosides in the neurons
- onset 2-4 y/o
- sx: progressive neurodegeneration, developmental delay, cherry red spot in retina, early death
19
Q
Fabry Disease
A
- deficiency in alpha-galactosidase
- accumulation of glycolipids in brain, heart, and kidney with resulting ischemia
- severe pain in extremities, skin lesions, hypohidrosis
20
Q
Krabbe Disease
A
- deficiency in beta-galactosidase
- accumulation of glycolipids causing destruction of myelin producing oligodendrocytes
- sx: demyelination, spasticity, rapid neurodegeneration, hypertonia, hyperflexia, deceberate posturing
21
Q
Metachromatic leukodystrophy
A
- deficiency in arylsulfatase
- accumulation of sulfated glycolipid compounds in neural tissue causing demyelination in PNS and CNS
- sx: loss of cognitive and motor functions, intellectual decline, ataxia, hyporeflexia, seizures
22
Q
Congenital Adrenal Hyperplasia (CAH)
A
- inherited
- partial or total deficiency of the enzymes involved in the synthesis of the adrenal steroid hormones leading to andrenogenital syndrome
23
Q
Addison Disease
A
- d/t autoimmune destruction of the adrenal cortex and underproduction of aldosterone
- leads to increased loss of Na and water resulting in severe hypotension
24
Q
Primary Aldosteronism (Conn Syndrome)
A
- hyperplasia or tumors of the adrenal cortex that produce excess aldosterone
- leads to excess Na and water retention and hypertension
25
Cushing's Syndrome
- results from tumors of the adrenal cortex that produce excess cortisol or the benign pituitary that produces too much ACTH
- moon face, buffalo hump, excess sweating
26
21-alpha-hydroxylase Deficiency
- most common form of CAH
- lack of cortisol and aldosterone
- salt-wasting and low blood volume -> HTN
- lack of cortisol leads to hyperplasia of the adrenal cortex and to elevated androgens which lead to masculinization of female genital and early virilization in males
27
11-beta-hydroxylase (CIP II B) Deficiency
- lack of cortisol and aldosterone but intermediate 11-deoxycorticosterone accumulates and acts like aldosterone -> increasing NA and fluid retention and HTN
- lack of cortisol leads to hyperplasia of the adrenal cortex and to elevated androgens which lead to masculinization of female genital and early virilization in males
28
Ricketts/ Osteomalacia
- vitamin D deficiency which causes reduced intestinal calcium absorption
- Blood Ca is decreased so PTH is released which breaks down bones leading to soft/bendy/brittle bones
29
Osteoporosis
- bone resorption >> bone formation
- d/t decreased estrogen, VitD, and calcium
- treat with biphosphonates
30
How do statins work?
- they are structural analogs of HMG-CoA and act as a competitive inhibitor of HMG-CoA reductase -> inhibiting cholesterol synthesis and lowering intracellular cholesterol and upregulating the synthesis of LDL receptors
31
Hypercholesterolemia
- can be familial or from a high cholesterol diet
- have elevated serum cholesterol
- in familial - homozygotes have a MI before age 5
- do not have LDL receptor to take LDL back into the liver
32
Type I Hyperlipoproteinemia
- Apo C-II deficiency
| - lots of TGs (can't unload the bus)
33
Type IIa Hyperlipoproteinemia
- abnormal LDL receptor
| - LDL and cholesterol increased
34
Metabolic Syndrome
- obesity, insulin resistance, high TGs, low HDL and high BP
35
Hyperinsulinemia
- causes dyslipidemia: increased TG, decreased HDL
- increased risk of CAD, HTN
- stimulates sympathetic NS leading to HTN
- bind to growth factors (RTK receptor) and stimulate MAPK and cell growth
- insulin receptors downregulated
