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Rare GI Diseases Flashcards

1
Q

How would a deficiency of MCAD affect energy metabolism

A

Reduced beta-oxidation will increase cellular demand for glucose leading to severe hypoglycemia
Also, despite the decreased rate of beta oxidation, the cells will not be able to produce ketone bodies b/c Acetyl CoA is reduced

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2
Q

Levels of what biomacromolecule would you expect to be elevated in Zellweger Syndrome?

A

VLCFAs due to absence of peroxisomes

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3
Q

what are unique clinical manifestations of Zellweger Syndrome?

A

Helen Keller deficits

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4
Q

What is the pathogenesis of Refsum’s disease?

A

defect of the enzymes involved in alpha-oxidation of branched FACs

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5
Q

what are the clinical manifestations of Refsum’s disease?

A

ataxia; neuropathy; retinitis pigmentosa

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6
Q

What is the pathogenesis of Niemann-Pick Disease Type A & B

A

Insufficient activity of the sphingomyelinase; Type B has a better prognosis than type A

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7
Q

what are the clinical manifestations of NP disease Type A?

A

Hepatosplenomegaly; V/D, delayed developmental milestones, Interstitial lung disease, progressive loss of motor skills, hypotonia
Advanced State: macular cherry-red spots in retina
Main cause of death: respiratory failure

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8
Q

what are the clinical manifestations of NP disease Type B?

A

Interstitial lung disease; hepatosplenomegaly; thrombocytopenia; hyperlipidemia; foamy storage histiocytes
NO NEUROLOGICAL SYMPTOMS

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9
Q

Composite a list of disease assoc. w/ degradation defects of glycosphingolipids

A

Tay-Sachs Disease
Fabry Disease
Gaucher Disease
Gangliosidosis
sandhoff disease
Niemann-Pick Disease
Metachromatic leukodystrophy

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10
Q

List the clinical manifestations of Tay-Sachs disease?

A

rapid neurodegeneration, cherry-red macula in eyes, seizures, muscular weakness, blindness

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11
Q

What are the clinical manifestations of Fabry Disease

A

red-purple skin rashes; kidney & heart failure; neuropathic pain in hands & feet; later stage: angiokeratomas
More common in young boys due to X-linked recessive inheritance pattern

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12
Q

What is the pathogenesis of demyelination seen in pts. w/ metachromatic leukodystrophy

A

reduced arylsulfatase activity results in accumulation of cerebroside sulfate in CNS & PNS

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13
Q

What are the clinical manifestations of metachromatic leukodystrophy

A

progressive paralysis & dementia

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14
Q

what are the clinical manifestations of Gaucher disease

A

Hepatosplenomegaly; osteoporosis of long bones

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15
Q

Sandhoff Disease presents w/ all the neurological symptoms of Tay-Sachs Disease + what addition symptoms

A

visceral involvement

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16
Q

what is the pathogenesis of demyelination assoc. w/ Krabbe Disease

A

defective lysosomal galactocerebrosidase; accumulation of globoid bodies of galactolipids and lipid-laden macrophages results in demyelination

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17
Q

List the clinical manifestations of Krabbe disease?

A

microcephaly; blindness due to optic atrophy; deafness; absent reflexes

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18
Q

Adenocarcinoma is an inevitability for pts. w/ Familial Adenomatous polyposis; When do pts. start to develop complications

A

2nd decade of life

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19
Q

What osseous abnormalities can be seen w/ FAP-variant Gardner Syndrome

A

osteomas in the skull & mandible; odontomas; extra teeth;

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20
Q

what cutaneous feature can be observed on a pt. w/ FAP-variant Gardner syndrome

A

epidermoid & sebaceous cysts; lipomas; fibromas; fibromatosis or desmoid tumors

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21
Q

What keratopathy can also be seen w/ FAP

A

congenital hypertrophy of the retinal pigment epithelium

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22
Q

Compare/Contrast FAP vs. AFAP (attenuated FAP)

A

AFAP: polyps < 100; primarily only affects the proximal colon; later onset of CRC

23
Q

What additional clinical manifestations are found in pts. w/ FAP Variant Turcot Syndrome

A

medulloblastoma; anaplastic astrocytoma; ependymoma; glioblastoma multiforme

24
Q

Compare/Contrast the different mutations involved in the pathogenesis of FAP & lynch syndrome

A

FAP: APC gene
LS: DNA mismatch repair of MLH & MSH genes; microsatellite instability

25
pts. w/ lynch syndrome are at an increased risk of developing what additional extracolonic malignancies
uterus, ovarian, & biliary system
26
What LS variant is assoc. w/ sebaceous neoplasms
Muir-Torre syndrome
27
List the clinical manifestations of Peutz-Jeghers syndrome
multiple hamartomas scattered throughout the GI canal; melanin deposits in lips, gums, face, genitals, & hands/feet
28
pts. w/ PJ syndrome are at increased risk for what malignancies
pancreatic, stomach, breast
29
what gene mutation is assoc. w/ serrated adenomatous polyposis
BRAF
30
what is the pathogenesis of type 1 Von Gierke disease
deficiency of glucose6phosphatase
31
Describe the pathogenesis of I-Cell disease
AKA mucolipidosis II; deficiency of GlcNAc-1-phosphotransferase: involved in the posttranslational modification of lysosomal target sequences for multiple different lysosome enzymes
32
what are the clincal manifestations of mucolipidosis II
congenital dislocation of multiple joints such as kyphosis & club feet; umbilical and inguninal hernias; hyperplastic gums; valvulopathies
33
what is the pathogenesis of Danon disease
deficiency of LAMP2
34
list the clinical manifestations of Danon disease
myopathy cardiomyopathy Mental Impairment
35
Impaired metabolism of methylmalonic acid leads to what physiological consequence
metabolic acidosis
36
What are the different pathogenesises of homocystinuria
Enzyme defects of cystine metabolism defect in Vit. B12 metabolism Vit B6 deficiency (cofactor for the cystathionine beta-synthase)
37
List the clinical manifestations of homecystinuria
osteoporosis; myocardial infarction; dislocation of the lenes intellectual disability
38
what is the pathogenesis of Tyrosinemia Type 1
defect of the fumaryl-acetoacetate hydrolase
39
what are the clinical manifestations of Tyrosinemia Type 1
cabbage like odor of urine liver failure renal tubular acidosis
40
what is the pathogenesis of Hartnup disease?
defective transport system for aromatic AAs
41
what physiological consequence can result from hartnup disease
Vit. B3 deficiency; niacin produced from W
42
what is the pathogenesis of cystinuria?
defective transport of basic AAs & cystine; excess cystine can form kidney stones
43
what is the pathogenesis of MSUD?
deficiency of BCAA ketoacid dehydrogenase
44
how is MSUD managed
mega doses of Vit B.
45
What enzymes are deficient in atypical & classical PKU?
Atypical: dihydropteridine reductase (incredibly rare) classical: phenylalanine hydroxylase
46
what is a clinical hallmark of PKU
musty urine odor due to unusual metabolites in the urine
47
What enzyme is defective in Alkaptonuria?
homogentisate oxidase
48
what is a clinical hallmark of Alkaptonuria?
Black urine upon exposure to light; pt.s also present w/ arthritis of the spine & abnormally dark pigmentation of cartilage & collagenous tissues
49
a deficiency of CPSI will lead to accumulation of what?
ammonium
50
deficiency of OTC will lead to the accumulation of what
a deficiency of this step in the urea cycle will cause accumulation of carbamoyl phosphate & depletion of ornithine
51
what are the clinical manifestations of CPSI & OTCase deficiencies
shortly after birth infants develop lethargy, irritability, vomiting, & coma
52
how does oral arginine help alleviate harmful symptoms assoc. w/ argininosuccinate lyase deficiency
depletion of arginosuccinate lyase will result in impaired cellular ability to convert argininosuccinate back to arginine: an essential step required for arginase conversation to ornithine Therefore, a deficiency of this step can be bypassed via administration of supplemental arginine
53
An infant less than 24 hr. old, it admitted to the neonatal ICU for unstable vital signs shortly after birth; a urine analysis revealed an absence of orotic acid. What is the most likely diagnosis?
CPSI deficiency

Clinical GI Review (5 decks)

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