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3. Metabolism > Urea Cycle > Flashcards

Urea Cycle Flashcards

1
Q

[Met/UCD/Basic]

Five catalytic enzymes in Urea cycle?

A

Carbamoylphosphate synthetase I (CPS1)
Ornithine transcarbamylase (OTC)
Argininosuccinic acid synthetase (ASS1)
Argininosuccinic acid lyase (ASL)
Arginase (ARG1)

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2
Q

[Met/UCD/Basic]

One cofactor-producing enzyme in Urea Cycle?

A

N-acetyl glutamate synthetase (NAGS)

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3
Q

[Met/UCD/Basic]

Two amino acid transporters in Urea Cycle?

A

Ornithine translocase (ORNT1; ornithine/citrulline carrier; solute carrier family 25, member 15)
Citrin (aspartate/glutamate carrier; solute carrier family 25, member 13)

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4
Q

[Met/UCD/Basic]

Which urea cycle disorder does NOT have hyperammonemia presentation?

A

No hyperammonemia in arginase deficiency
(formed arginine, which contains 2 waste nitrogen molecules, can be released from the hepatocyte and excreted in urine)

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5
Q

[Met/UCD/Basic]

Classic presentation of hyperammonemia in urea cycle disorder? (3)
- Birth history
- Age
- Presentation

A

Normal term newborn
By 5 days of age
Hypotonia, vomiting, lethargy, coma

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6
Q

[Met/UCD/Basic]

Typical ammonia level in classic urea cycle disorder?

A

> 1,000 mmol/L

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7
Q

[Met/UCD/Basic]

Typical blood gas finding in classic urea cycle disorder?

A

Respiratory alkalosis
(Hyperventilation secondary to the effect of hyperammonemia on the brain stem)

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8
Q

[Met/UCD/ARG]

Typical presentation of Arginase deficiency (argininemia) (ARG1)?
- Biochemical
- Growth
- Symptoms

A

Episodic hyperammonemia
Slowing of linear growth at age one to three years
Severe spasticity, loss of ambulation, complete loss of bowel and bladder control, and severe intellectual disability. Seizures.

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9
Q

[Met/UCD/ORNT1]

Typical presentation of Ornithine translocase (ORNT1) deficiency? (2)

A

Hyperammonemia
Chronic liver dysfunction

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10
Q

[Met/UCD/Citrin]

Typical presentation of Citrin deficiency? (3)
- Neonates
- Children
- Adolescence

A

Infants with neonatal intrahepatic cholestasis
Older children with failure to thrive
Hyperammonemia in adolescence or adulthood

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11
Q

[Met/UCD/Basic]

Biochemical testing for urea cycle disorder? (3)

A

Plasma amino acid analysis
Urine amino acid analysis
Urinary orotic acid

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12
Q

[Met/UCD/Basic]

Commonly elevated amino acids in all urea cycle disorder? (3)

A

Alanine
Asparagine
Glutamine

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13
Q

[Met/UCD/OTC]

Metabolites pattern for Ornithine transcarbamylase (OTC) deficiency?
Citrulline, Orotic acid, ammonia, arginine

A

Citrulline: Absent or low
Orotic acid: Very high
Ammonia: Very high
Arginine: Low

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14
Q

[Met/UCD/OTC]

Distinguishing metabolite between Ornithine transcarbamylase (OTC) deficiency and Carbamoyl phosphate synthetase 1 (CPS1) deficiency?

A

Ornithine transcarbamylase (OTC) deficiency: High orotic acid
Carbamoyl phosphate synthetase 1 (CPS1) deficiency: Low orotic acid

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15
Q

[Met/UCD/CPS]

Metabolites pattern for Carbamoyl phosphate synthetase 1 (CPS1) deficiency?
Citrulline, Orotic acid, ammonia, arginine

A

Citrulline: Absent or low
Orotic acid: Low
Ammonia: Very high
Arginine: Low

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16
Q

[Met/UCD/ASL]

Metabolites pattern for Argininosuccinic aciduria (ASL deficiency)?
Citrulline, Orotic acid, ammonia, arginine

A

Citrulline: Very high
Orotic acid: High
Ammonia: High
Arginine: Low

17
Q

[Met/UCD/ASS]

Metabolites pattern for Citrullinemia type I (ASS1 deficiency)?
Citrulline, Orotic acid, ammonia, arginine

A

Citrulline: Very high
Orotic acid: High
Ammonia: High
Arginine: Low

18
Q

[Met/UCD/Arginase]

Metabolites pattern for Arginase deficiency?
Citrulline, Orotic acid, ammonia, arginine

A

Citrulline: Normal
Orotic acid: Normal
Ammonia: Normal
Arginine: Very high

19
Q

[Met/UCD/Basic]

[Urea Cycle]
Urea cycle disorder in order of prevalence? (6)

A

Ornithine transcarbamylase (OTC) deficiency
Argininosuccinic aciduria (ASL deficiency)
Citrullinemia type I (ASS1 deficiency)
Arginase deficiency
Carbamoyl phosphate synthetase 1 (CPS1) deficiency
N-acetyl glutamate synthetase (NAGS) deficiency

20
Q

[Met/UCD/Basic]

Hemodialysis indication ammonia level in urea cycle disorder

A

Hemodialysis if ammonia > 200 mmol/L

3. Metabolism (14 decks)

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