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MFM I > Diseases and Disorders Exam 5 > Flashcards

Diseases and Disorders Exam 5 Flashcards

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
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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
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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
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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
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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
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6
Q

Adrenoleukodystrophy

A
  • peroxisomal disorder

- accumulation of VLCFA d/t defective peroxisomal oxidation

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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
Q

Cushing’s Syndrome

A
  • 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
Q

21-alpha-hydroxylase Deficiency

A
  • 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
Q

11-beta-hydroxylase (CIP II B) Deficiency

A
  • 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
Q

Ricketts/ Osteomalacia

A
  • 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
Q

Osteoporosis

A
  • bone resorption&raquo_space; bone formation
  • d/t decreased estrogen, VitD, and calcium
  • treat with biphosphonates
30
Q

How do statins work?

A
  • 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
Q

Hypercholesterolemia

A
  • 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
Q

Type I Hyperlipoproteinemia

A
  • Apo C-II deficiency

- lots of TGs (can’t unload the bus)

33
Q

Type IIa Hyperlipoproteinemia

A
  • abnormal LDL receptor

- LDL and cholesterol increased

34
Q

Metabolic Syndrome

A
  • obesity, insulin resistance, high TGs, low HDL and high BP
35
Q

Hyperinsulinemia

A
  • 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

MFM I (10 decks)

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