Quiz
In-born Errors in Metabolism
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Questions in this quiz (37)
1Gout can be considered as a universal inborn error of metabolism.
- ATrue
- BFalse
2Which of the following best describes the result of having a uricase deficiency?
- AUricase catalyses the last step in purine catabolism and deficiency causes a build up of urate to crystallise in joints.
- BUricase catalyses the last step in purine anabolism and deficiency causes a build up of glucose to crystallise in the pancreas.
- CUricase catalyses the last step in pyramide anabolism and deficiency causes a build up of purines to crystallise in the joints.
3Which of the following points describe Lesch-Nylon Syndrome?
- AInherited X-linked Syndrome
- BInherited or Acquired through excessive alcohol consumption
- CPresents with neurological symptoms.
- DOne symptom is gouty arthritis
- EResults from a congenital hypoxanthine phosphoribosyl transferase (HPRT) defect.
- FResults from a congenital uricase defect
- GSymptoms arise from enhanced purine synthesis.
4Fructosekinase Deficiency has relatively mild symptoms, the only consequence of which is:
- AFructouria.
- BIntolerance to fructose-containing foodstuffs.
5Aldolase B deficiency: Pathogenesis?
- AFructose-1-phosphate accumulates in the liver, kidneys and small intestine.
- BGlucose-6-phosphate accumulates in the liver, kidneys and joints.
- CFructose-1-phosphate levels fall to undetectable levels and atrophy is eventually observed in the liver, kidneys and small intestine.
6Aldolase B Deficiency: Effects?
- ASevere hypoglycaemia.
- BSevere hyperglycaemia.
- CDecreased ATP, ADP and AMP in hepatocytes through the action of AMP deaminase.
- DDecreased fructose-1-phosphate.
7Which one of the following is NOT one the enzymes crucial to the catabolism of the conversion of beta- to alpha-galactose?
- AHexokinase
- BGalactose Mutarotase
- CGalactokinase (GALK)
- DUDP-Galactose-4-Epimerase (GALE)
- EGalactose-1-Phosphate Uridylyltransferase (GALT)
8The metabolism of Galactose, as represented by the Le Loir Pathway, results in the overall conversion of beta-d-galactose to fructose-6-phosphate which can then enter the:
- AGlycolysis Pathway
- BTCA Cycle
- CMitochondria
- DLiver
9Galactosaemia is an autosomally recessive trait in which GALT if deficient. Galactose and Galactisol accumulate and minor pathways are activated to deal with this.
- ATrue
- BFalse
10Infants with this GALT deficiency who are fed milk rapidly develop:
- AHepatosplenomegaly
- BJaundice
- CHypoglycaemia
- DHyperglycaemia
11Fibrosis of the liver begins at ---------- of age and progresses to cirrhosis by -------------- of age.
- A6 weeks, 6 months
- B12 weeks, 6 months
- C12 days, 8 months
- D6 weeks, 12 months
12The osmotic stress of galactitiol causes cataracts because:
- AIt introduces crystallins into the eye.
- BIt damages the optic nerve with crystallins.
- CIt modifies crystallins in the eye, which normally prevent cloudiness.
13Type 2 Galactosaemia is:
- Aa GALK deficiency which is more severe in the type 1.
- Ba GALK deficiency which is milder than type 1.
- Ca GALE deficiency which is milder than type 1.
14Type 3 Galactosemia is:
- Aa GALE deficiency which is variable in severity.
- Ba GALE deficiency which is fatal.
- Ca GALK deficiency which is variable in severity.
15Glycogen, a glucose polymer, is stored preferentially in the:
- ALiver, skeletal muscle, cardiac muscle and kidney cortex.
- BThe cardiac muscle, the kidney medulla and the pancreas.
- CThe kidney cortex, the skeletal muscle and the gall bladder.
16Which of the following best describes the storage of glycogen?
- AUp to 120,000 glucose monomers are joined by alpha(1-4) linkages with the occasional branch formed by an alpha(1-6) linkage to form a granule with non-reducing ends facing outwards.
- BUp to 120,000 glucose monomers are joined by alpha(1-6) linkages with the occasional branch formed by an alpha(1-4) linkage to form a granule with reducing ends facing inwards.
17Which one of the following enzymes is NOT important for Glycogenolysis?
- AUDP-Glucose-Pyrophorylase
- BPhosphoglucomutase
- CGlycogen Phosphorylase
- DDebranching Enzyme
- EPhosphofructokinase
18Despite there being only 4 crucial enzymes, there are how many specific metabolic disease related to glycogen storage?
- A>10
- Bonly 2
- C5
- D>6
19In McArdle's Disease, patients are deficient in myophosphorylase - the skeletal muscle isozyme of glycogen phosphorylase enzyme.
- ATrue
- BFalse
20McArdle's Sufferers are unable to cleave the glycogen at the alpha(1-6) linkages to produce glucose for energy production.
- ATrue
- BFalse
21Which of the following are good descriptions of McArdle's Disease?
- AMuscle cramps on exercise.
- BCannot produce lactate during ischaemic exercise.
- CCannot tolerate eating high glucose-content foods.
22McArdle's Disease: Clinical Features?
- AProlonged, vigorous exercise can lead to widespread necrosis of myofibres and release of creatine kinase and myoglobin.
- BCan eventually lead to myoglobinuria.
- CCan eventually lead to renal failure.
- DPatient's experience a second wind - when their liver glycogen stores are eventually used instead during exercise.
- EProliferation of the muscle cells.
- FSevere fatigue when not exercising as well as during exercise.
23Any muscle biopsies should be taken....
- ADuring a episode.
- BDuring second wind.
- C5 minutes after recovery from exercise.
- DSeveral weeks after an episode to allow muscle regeneration.
24Cori's/Forbe's Disease is a rare, autosomal recessive disorder characterised by a deficiency or absence of the muscle and/or liver debranching isozymes.
- ATrue
- BFalse
25The glucose monomers can only be cleaved to around 4-5 monomers from the branch point. The inner shells of the glycogen granule are never reach and hyperglyaemia results.
- ATrue
- BFalse
26Which of the following is NOT a feature of Cori's/Forbe's Disease?
- AHepatomegaly and growth retardation are usual.
- BMuscle Symptoms vary between patients.
- CNeutrophils can be observed with large glycogen granules.
- DMonocytes infiltrate the pancreas due to an inflammatory response.
27von Girke's Disease is a deficiency of glucose-6-phosphate enzymes, which normally allows the release of the glucose into the bloodstream.
- ATrue
- BFalse
28If glucose-6-phosphate is deficient, which of the following is likely occur as a consequence?
- AGlucose-6-phosphate accumulates leading to hepatomegaly and hyperlipidaemia.
- BGlucose accumulates leading to hyperglycaemia.
- CGlucose-6-phosphate accumulates leasing to liver and spleen atrophy and chronic hypoglycaemia.
29In patient's with von Girke's disease, despite already being in hypoglycaemia, the accumulation of glucose-6-phosphate upstream of the affected enzyme means that the small level of availble glucose is stored as glycogen due to activation of glycogen synthase.
- ATrue
- BFalse
30Which of the following best describes the cause of type 1b von Gierke's Disease?
- AT1 Transporter Protein is absent. Glucose-6-Phosphatase is absent.
- BT1 Transporter Protein is absent. Glucose-6-Phosphatase is present and functional.
- CT1 Transporter Protein is absent. Glucose-6-Phosphatase is present but not functional.
31Type IV: Anderson's Disease results from a deficiency in:
- AThe Debranching Enzyme - Amyloglucantransferase
- BGlucose-6-Phosphatase
- CT1 Transporter Protein
32The charactersitic sign of Anderson's Disease is the modified stored to glycogen. The new molecule called ---------- resembles --------- found in ------------.
- AAmylopectin. Amylose. Plants.
- BAmylopectin. Sarcolemma. Muscles.
- CPhoshofructose. Glucose. Skeletal Muscle.
33This modified and defective glycogen storage molecule has poor solubility because it is large and poorly packaged. It can lead to cirrhosis and cardiomyopathy.
- ATrue
- BFalse
34Children with Anderson's Disease usually between the ages of ---- and ---- of ---------.
- A2 and 4 of liver cirrhosis.
- B3 and 10 of cardiac defects.
- C1 and 5 of hypoglycaemic shock.
35Which of the following best describes the behaviour of Glycogenin?
- AGlycogenin is an autocatalyst which catatlyses the attachment of glucose to specific Tyrosine residues on itself using tyrosyl glycosyl transferase activity.
- BGlycogenin is a catalyst which catatlyses the attachment of glucose to specific Tyrosine residues on DNA using tyrosyl glycosyl transferase activity.
- CGlycogenin is an autocatalyst which catatlyses the attachment of glucose to specific Tyrosine residues with no activation from other molecule or enzymes.
36A Glycogenin-1 Deficiency results in:
- AFailure to prime glycogenin in muscle isoforms.
- BFailure to prime glycogenin in liver isoforms.
- COver-priming of glycogenin in muscle isoforms.
- DOver-priming of glycogenin in liver and muscle isoforms.
37Patients with a Glycogenin-1 Deficiency experience:
- AMuscle weakness and over-predominance of hepatocytes.
- BMuscle weakness and predominance of type 1 alpha-collagen in skeletal muscle.
- CMuscle weakness and predominance of slow twitch muscle fibres.
- DMuscle cramps and predominance of slow twitch muscle fibres.
Information
- Description
- Made using the lecture notes from John Moody.
- Author
- Sophie Barrett
- Language
- English
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