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EoM: Exam 4 > Clinical > Flashcards

Clinical Flashcards

1
Q

What enzyme is missing in galactosemia? What are some symptoms? How do you treat it?

Note: inherited AR

A

UDP-glucose -> galactose-1-P uridyltransferase; hepatomegaly, cataracts, CNS damage; removal of galactose from diet (lactose)

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2
Q

An indirect problem from fructose metabolism is gout. Why?

A

ADP and AMP is broken down, which leads to uric acid buildup

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3
Q

What disease?

nausea/vomiting after eating foods w/ fructose, hypoglycemia, potential liver damage, AR

A

aldolase B deficiency (fructose intolerance)

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4
Q

What disease?

relatively benign, fructose eliminated in urine w/o metabolism

A

fructokinase def. (essential fructosuria)

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5
Q

What are the 2 vitamin deficiencies?

  1. muscle weakness and mental confusion
  2. dry, cracked lips and mild dermtitis
A
  1. B1 - beriberi (thiamine pyrophosphate)

2. FAD (riboflavin/B2)

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6
Q

What is the disease, and what enzyme is deficient?

glycogen accumulates in liver/renal tubule cells, hypoglycemia, lactic acid, ketosis, and hyperlipemia

A

Type Ia - Von Gierke; glucose-6-phosphatase

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7
Q

What is the disease, and what enzyme is deficient?

accumulation of glycogen in lysosomes; child: muscle hypotonia and death from heart by 2; adult: muscle dystrophy

A

Type II - Pompe; lysosome α1->4 and α1->6 glucosidase

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8
Q

What is the disease, and what enzyme is deficient?

hypoglycemia, hepatomegaly, accumulation of a-dextrin, weak muscles

A

Type IIIa-Cori; liver and muscle debranching enzyme

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9
Q

What is the disease, and what enzyme is deficient?

hepatosplenomegaly, accumulation of branched sugar, death from heart or liver by 5 years of age

A

Type IV-Andersen; branching enzyme

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10
Q

What is the disease, and what enzyme is deficient?

poor exercise tolerance from low blood lactate, high muscle glycogen

A

Type V-McArdle; muscle phosphorylase

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11
Q

What is the disease, and what enzyme is deficient?

hepatomegaly, accumulation of glycogen in liver, mild hypoglycemia, “good”

A

Type VI-Hers; liver phosphorylase

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12
Q

What is the disease, and what enzyme is deficient?

XR; found in African Am., Mediterranean, and Asian; under stress, drug treatment or ingestion of fava beans leads to hemolytic anemia because there’s decreased NADPH

A

glucose-6-P dehydrogenase deficiency

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13
Q

What is the group of diseases?

absent peroxisomes in hepatocytes and fibroblasts, accumulation of VLC FA’s, phytanic acid, and bile acid intermediates/plasmalogen def, mutations in PEX 2, 5, 6, and/or 12

A

zellwegger spectrum disorders

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14
Q

What is the disease?

craniofacial, neuro, and ocular problems, hypotonia, epileptic seizures, severe psychomotor retardation, micropolygyria (impaired neuronal migration and severe demyelination); patients die by end of year 1

A

Zellwegger Syndrome

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15
Q

What is the disease?

milder ZS symptoms w/ adrenal atrophy

A

neonatal adrenoleukodystrophy

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16
Q

What is the disease?

no neonatal abnormalities and only mild dysmorphia; mental retardation, retinitis pigmentosa, neurosensory deafness, growth retardation

A

infantile refsum’s disease

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17
Q

What is the disease?

X-linked, postlingual progressive sensorineural deafness, dystonia, spasticity, dysphagia, mental deterioration, paranoia, and cortical blindness

A

human deafness dystonia syndrome aka Mohr-Tranebjaerg

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18
Q

What is the disease?

X-linked, infantile cardiomyopathy, abnormal cardiolipin composition, skeletal myopathy, neutropenia, and growth retardation; could be defect in phospholipid acyltransferase aka tafazzin that normally remodels cardiolipin by linoleate transfer

A

Barth syndrome

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19
Q

What is the disease, and what is the DNA mutation?

progressive myoclonic epilepsy, mito. myopathy w/ ragged red fibers, and slowly progressive dementia; late childhood to adult

A

MERRF; point mutation in tRNA-Lysine

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20
Q

What 2 drugs block both PLA2 and cyclooxygenase?

What other 2 drugs also block cyclooxygenase?

A

cortisone and prednisone

aspirin and ibuprofen

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21
Q

Carnitine def. is the decreased ability to use LCFA as fuel, which means you get an accumulation of toxic amounts of free FA’s. What are the 5 causes of this deficiency?

A
  1. liver dis. (where carnitine is made)
  2. malnutrition or vegetarian diet (no meat)
  3. increased requirement - burns or pregnancy
  4. hemodialysis - made in kidneys; you’re on this, you have bad kidneys. 5. congenital def.
22
Q

In ability to use LCFA as fuel, as in carnitine def., impairs the body the ability to do what?

A

make glucose during a fast –> hypoglycemia, coma, and death

sustain exercise

23
Q

What is the disease, and what is the deficient enzyme?
retinitis pigmentosa, progressive peripheral neuropathy, skeletal malformations, severe motor weakness, peroxisomes can’t attack microbes

A

Refsum disease; peroxisomal enzyme responsible for 1 of the starting steps in oxidation of phytanic acid

24
Q

Absence of insulin, as in diabetic ketosis, can cause what 2 major biochemical problems? What does the liver produce in diabetic ketosis?

A

liver can’t provide oxaloacetate and insulin normally decreases FA metabolism

large amount of ketone bodies

25
Q

What up regulates the transcription of PEPCK in adipose tissue? What down regulates it?

What up regulates it in the liver?

A

thiazolidinediones (pill that controls diabetes); glucocorticoids (goes up during stress)

glucocorticoids

26
Q

What disease has an accumulation of ceramide?

A

Farber’s disease

27
Q

What is the disease?

failure to degrade gangliosides due to lack of hexoamininidase A, buildup of gangliosides in nervous system –> disability and death

A

Tay-Sachs

28
Q

What is the disease? - accumulation of sphingomyelin due to defect in sphingomyelinase; three types:
A: dis. begins during infancy, enlarged liver, and spleen, failure to thrive, progressive detrioration of Nervous System
B: less severe C: not diagnosed until adulthood

A

Niemann-Pick disease

29
Q

What is the disease?

macrophages become filled w/ undigested glucocerebroside, spleen and liver enlarge, fatigue, bleeding problems, fragile bones

A

Gaucher’s disease

30
Q

What groups of people may have lactose deficiency? What other group of people have decreased lactase?

A

infants, Mediterranean, African black, Native American, Mexican American, and Asian

older adults

31
Q

What cycle is affected with any of the following deficiencies? What does a defect in this cycle cause?
argininosuccinate lyase def. (treat w/ arginine), carbamoyl phosphate synthetase I def., ornithine transcaramoylase def., argininosuccinate synthase def.

A

urea cycle

hyperammonemia

32
Q

What is the disease?

def. of the dehydrogenase enz. that helps to breakdown isoleucine, leucine, and valine; these accumulate in blood and urine; distinct odor; mental and physical deficits unless diet is restricted

A

maple syrup urine disease

I Love Vermont maple syrup.

33
Q

What is the disease?
def. of homogentisate-1,2-dioxygenase, homogentisate accumulates and colors when exposed to air, toxic metabolite produced by oxidation that must be avoided: benzoquinone acetic acid, treat w/ restricting Phe and Tyr in diet, take large doses of ascorbic acid

A

alcaptonuria

34
Q

What is the disease?
def. of phenylalanine hydroxylase, phenylalanine accumulates, mental retardation if untreated, treat by Phe-restricted diet

A

phenylketonuria (PKU)

35
Q

What is the disease?

def. of arginosuccinate lyase; lethargy, seizures, decreased muscle tension

A

citrullinema

36
Q

What is the disease?

various enz. def., weakness, self-mutilation, liver damage, mental retardation

A

tyrosinemia

37
Q

What is the disease?

def. of tyrosinase, absence of pigmentation

A

albinism

38
Q

What is the disease?

def. of cystathionine β-synthase, scoliosis, muscle weakness, mental retardation, thin blond hair

A

homocystinuria

39
Q

What is the disease?

def. of α-aminoadipic semialdehyde dehydrogenase, seizures, mental retardation, lack of muscle tone, ataxia

A

hyperlysinemia

40
Q

What do high levels of homocysteine put you at an increased risk for?
High levels indicate what enzyme is lacking?
How is homocysteine excess treated?

A

CVD
cystathionine synthase
folate and vitamin B6

41
Q

What is the porphyria?

uroporphyrinogen III cosynthase defect, photosensitive

A

congenital erythropoietic

42
Q

What is the porphyria?

defect of ferrochelatase, photosensitive

A

erythropoietic protoporphyria

43
Q

What is the porphyria?

ALA dehydratase def. and photosensitive

A

ALA dehydratase def.

44
Q

What is the porphyria?

porphobilonogen deaminase defect and neurovisceral issues

A

acute intermittent porphyria

45
Q

What is the porphyria?

defect in coproporphyrinogen oxidase, neurovisceral, and some photosensitivity

A

hereditary coproporphyria

46
Q

What is the porphyria?

defect of protoporphyrinogen oxidase, neurovisceral, photosensitive

A

variegate porphyria

47
Q

What is the porphyria?

defect in uroporphyrinogen decarboxylase, photosensitive

A

porphyria cutanea tarda

48
Q

What two enzymes are subject to lead poisoning? What will this lead to a buildup in?

A

δ ALA dehydratase and ferrochelatase; lead to buildup of δ-ALA and coproporphyrin in serum and urine

49
Q

ALA dehydratase def. and acute intermittent porphyria lead to a buildup of what? Patients with either will have abdominal pain and psychiatric disturbances. How do you treat them?

A

ALA and porphobilonogen

P-450 metabolized drugs

50
Q

What occurs when bilirubin production is greater than excretion? Where is the excess deposited? What color does a person with this condition appear to be?

A

jaundice; skin and sclera; yellow

51
Q

What can cause jaundice?

A

sickle cell anemia, obstruction of bile duct (backed up bilirubin), and liver damage

EoM: Exam 4 (3 decks)

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