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3. Metabolism > Fatty Acid > Flashcards

Fatty Acid Flashcards

1
Q

[Met/FA/Basic]

Three categories of fat metabolism defects? (3)

A
  1. Primary carnitine deficiency
  2. Defects of fatty acid entry into mitochondria (carnitine palmitoyltransferase 1 and 2 and carnitine-acylcarnitine translocase)
  3. Defects in b-oxidation (MCAD, LCHAD, VLCAD)
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2
Q

[Met/FA/PCD]

Clinical presentation of primary carnitine deficiency? (5)
- Sepctrum
- Infancy, childhood, pregnancy, adulthood

A
  1. Wide spectrum from asymptomatic
  2. Metabolic decompensation in infancy
  3. Childhood myopathy
  4. Pregnancy-related decreased stamina or exacerbation of cardiac arrhythmia
  5. Fatigability in adulthood
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3
Q

[Met/FA/Basic]

Characteristic metabolic decompensation by fatty acid oxidation defects? (4)
- Trigger
- Biochemical (3)

A
  1. Triggered by fasting
  2. Hypoketotic hypoglycemia
  3. Hepatomegaly, elevated liver transaminases
  4. Hyperammonemia
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4
Q

[Met/FA/Carnitine]

Type of fatty acid deficiency for Carnitine palmitoyltransferase 1A (CPT1A) deficiency, Carnitine palmitoyltransferase II (CPT II) deficiency and Carnitine-acylcarnitine translocase (CACT) deficiency?

A

Long-chain fatty acid oxidation

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5
Q

[Met/FA/Carnitine/CPT1A]

Typical presentation of Carnitine palmitoyltransferase 1A (CPT1A) deficiency (2)

A
  1. Hepatic encephalopathy when energy demands are increased
  2. Hypoketotic hypoglycemia
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6
Q

[Met/FA/Carnitine/CPT1A]

Complication of pregnancy when fetus has Carnitine palmitoyltransferase 1A (CPT1A) deficiency?

A

Acute fatty liver of pregnancy

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7
Q

[Met/FA/Basic]

Chronic management of fatty acid oxidation defects?

A

Frequent eating during the day
Cornstarch at night

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8
Q

[Met/FA/Carnitine/CPT2]

Three forms of Carnitine palmitoyltransferase II (CPT II) deficiency?

A
  1. Lethal neonatal form
  2. Severe infantile hepatocardiomuscular form
  3. Myopathic form
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9
Q

[Met/FA/Carnitine/CPT2]

Presentation of Lethal neonatal form and Severe infantile hepatocardiomuscular form of Carnitine palmitoyltransferase II (CPT II) deficiency? (4)
- Biochemical
- 3 organ systems

A
  1. Hypoketotic hypoglycemia
  2. Liver failure
  3. Cardiomyopathy
  4. Seizures, and early death
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10
Q

[Met/FA/Carnitine/CPT2]

Presentation of Myopathic form of Carnitine palmitoyltransferase II (CPT II) deficiency?

A

Exercise-induced muscle pain and weakness, sometimes associated with myoglobinuria

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11
Q

[Met/FA/Carnitine]

Most frequent cause of hereditary myoglobinuria?

A

Carnitine palmitoyltransferase II (CPT II) deficiency

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12
Q

[Met/FA/Carnitine/CACT]

Types of Carnitine-AcylCarnitine Translocase (CACT) deficiency? (2)

A
  1. Severe neonatal-onset disease
    most common
    within two days after birth
  2. Attenuated cases
    the first months of life
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13
Q

[Met/FA/Carnitine]

Metabolic disorder for carnitine elevation other than nutritional supplement?

A

Carnitine palmitoyltransferase 1A (CPT1A) deficiency
(Serum acylcarnitine profile is normal)

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14
Q

[Met/FA/Carnitine]

Biochemical characteristics of
Carnitine palmitoyltransferase II (CPT II) deficiency and
Carnitine-acylcarnitine translocase (CACT) deficiency
compared to Carnitine palmitoyltransferase 1A (CPT1A) deficiency? (2)

A
  1. Serum carnitine levels are very low
  2. Elevated C16 esters (an abnormal acylcamitine profile)
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15
Q

[Met/FA/b-oxidation]

Three types of Defects in b-Oxidation?

A
  1. Defects in medium-chain acyl-CoA dehydrogenase (MCAD)
  2. Defects in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD)
  3. Defects in very-long-chain acyl-CoA dehydrogenase (VLCAD)
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16
Q

[Met/FA/b-oxidation]

Characteristic clinical difference in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) compared to MCAD or VLCAD? (2)

A

Cholestatic liver disease
Retinopathy
(LiverOphtha-ng chain)

17
Q

[Met/FA/b-oxidation]

Most common disorder of fatty acid β-oxidation?

A

Medium-chain acyl-coenzyme A dehydrogenase (MCAD)

18
Q

[Met/FA/b-oxidation/MCAD]

Presentation of Medium-chain acyl-coenzyme A dehydrogenase (MCAD)? (4)

A
  1. Vomiting, hepatomegaly, liver disease
  2. Hypoketotic hypoglycemia
  3. Lethargy, seizures, and coma
  4. Triggered by a common illness
19
Q

[Met/FA/b-oxidation/MCAD]

Newborn screening test for Medium-chain acyl-coenzyme A dehydrogenase (MCAD)?

A

Quantitative acylcarnitine profile
(Elevations of C8-acylcarnitine with lesser elevations of C6-, and C10-acylcarnitine)

20
Q

[Met/FA/b-oxidation/LCAD]

Enzyme deficiency overlaps with Long-chain hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency?

A

Trifunctional protein (TFP) deficiency

21
Q

[Met/FA/b-oxidation/LCAD]

Presentation of Long-chain hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and Trifunctional protein (TFP) deficiency?
- Severe, intermediate, and mild

A
  1. Severe: Within a few days of birth with hypoglycemia, hepatomegaly, encephalopathy, and often cardiomyopathy.
  2. Intermediate: hypoketotic hypoglycemia with infection or fasting in infancy
  3. Mild (late-onset): myopathy and/or neuropathy
22
Q

[Met/FA/b-oxidation]

Fatty acids carbon chain numbers?

Short: __
Medium: __
Long: __
Very long: __

A
  1. Short-chain: 3–5 carbon atoms
  2. Medium-chain: 6–12 carbon atoms
  3. Long-chain: 13–22 carbon atoms
  4. Very long chain: >22

3. Metabolism (14 decks)

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