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3. Metabolism > Organic Acid > Flashcards

Organic Acid Flashcards

1
Q

[Met/OA/Basic]

Common complications for organic acidemias? (2)

A

Bone marrow suppression
Pancreatitis

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2
Q

[Met/OA/PA]

Enzyme defect in propionic acidemia?

A

Propionyl-CoA carboxylase (PCC)

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3
Q

[Met/OA/PA]

Newborn screening finding for propionic acidemia?

A

Elevated C3 (propionylcarnitine)

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4
Q

[Met/OA/PA]

Amino acids converted by propionyl CoA? (4)

A

Valine
Methionine
Isoleucine
Threonine
(VoMIT)

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5
Q

[Met/OA/PA]

Gene defect for propionic acidemia?

A

PCCA or PCCB
(Propionyl-CoA Carboxylase)

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6
Q

[Met/OA/PA]

Chronic complications of propionic acidemia? (4)

A

Growth impairment
Intellectual disability, seizures, basal ganglia lesions
Pancreatitis
Cardiomyopathy

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7
Q

[Met/OA/PA]

Acute management of propionic acidemia? (3)

A

Intravenous glucose and lipids
Protein restriction to reduce propiogenic precursors
Intravenous carnitine

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8
Q

[Met/OA/PA]

Chronic management of propionic acidemia? (3)

A

Protein restriction
Carnitine
Oral metronidazole (reduce gut microbactrium to produce pronionic acid)

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9
Q

[Met/OA/MMA]

Enzyme defect in Methylmalonic Acidemias? (3)

A

Methylmalonyl-CoA mutase
Cofactor, 5-deoxy-adenosyl-cobalamin (cblA, cblB, or cblD-MMA)
Methylmalonyl-CoA epimerase

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10
Q

[Met/OA/MMA]

Three phenotypes of Methylmalonic Acidemias?

A

Infantile/non-B12-responsive
Partially deficient or B12-responsive phenotypes
Methylmalonyl-CoA epimerase deficiency

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11
Q

[Met/OA/MMA]

Presentation of Methylmalonyl-CoA epimerase deficiency? (2)

A

Wide range from complete absence of symptoms to severe metabolic acidosis
Ataxia, dysarthria, hypotonia, mild spastic paraparesis, and seizures

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12
Q

[Met/OA/MMA]

Late complications of Methylmalonic Acidemias? (5 systems)

A
  1. Neuro: intellectual disability, metabolic stroke, optic nerve atrophy
  2. Cardiac: arrhythmias and/or cardiomyopathy
  3. GI: Pancreatitis, growth failure, liver steatosis/fibrosis/cancer
  4. Renal: tubulointerstitial nephritis, renal cancer
  5. Immune: functional immune impairment, bone marrow failure
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13
Q

[Met/OA/IVA]

Enzyme defect in Isovaleric acidemia?

A

Isovaleryl-CoA dehydrogenase in leucine metabolism

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14
Q

[Met/OA/IVA]

Newborn with organic acidemia and sweaty feet smell? (2)

A

Isovaleryl-CoA dehydrogenase
Multiple acyl-CoA dehydrogenase deficiency

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15
Q

[Met/OA/Biotinidase]

Presentations of biotinidase deficiency? (2 systems)

A

Neuro: seizures, hypotonia, ataxia, developmental delay, vision problems, hearing loss
Skin: cutaneous abnormalities (e.g., alopecia, skin rash, candidiasis)

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16
Q

[Met/OA/MCD]

Classic triad of carboxylase deficiency?

A

Encephalopathy
Alopecia
Rash
(enCe, Alo, Rash CAR)

17
Q

[Met/OA/MCD]

Two examples of multiple carboxylase deficiency?

A

Biotinidase deficiency
Holocarboxylase synthetase deficiency

18
Q

[Met/OA/MADD]

Biochemical characteristics for acute presentation of type I or II Multiple acyl-CoA dehydrogenase deficiency (MADD)? (2)

A
  1. Severe metabolic acidosis, profound hypoglycemia, hyperammonemia
  2. Metabolic decompensation resembling Reye syndrome (acute noninflammatory encephalopathy with fatty liver failure)
19
Q

[Met/OA/MADD]

Types of Multiple acyl-CoA dehydrogenase deficiency? (3)

A
  1. type I (neonatal onset with congenital anomalies)
  2. type II (neonatal onset without congenital anomalies)
  3. type III (late onset)
20
Q

[Met/OA/MADD]

Characteristics of type I or II Multiple acyl-CoA dehydrogenase deficiency?
- age of onset
- 4 organ systems

A
  1. in the neonatal period
  2. dysmorphic facial features
  3. Hypertrophic cardiomyopathy
  4. large cystic kidneys, hypospadias and chordee in males,
  5. neuronal migration defects (heterotopias) on brain MRI
    (with metabolic decompensation like Reye syndrome)
21
Q

[Met/OA/MADD]

Congenital anomalies of Multiple acyl-CoA dehydrogenase deficiency? (4)

A
  1. Dysmorphic facial features
  2. Large cystic kidneys
  3. Hypospadias and chordee in males
  4. Neuronal migration defects (heterotopias) on brain MRI
22
Q

[Met/OA/MADD]

Characteristics of type 3 Multiple acyl-CoA dehydrogenase deficiency? (3)
- Age of onset
- Typical Presentation
- Rare symptoms

A
  1. From infancy to adulthood
  2. Muscle weakness, exercise intolerance, and/or muscle pain
  3. Rarely, severe sensory neuropathy, proximal myopathy
23
Q

[Met/OA/MADD]

Treatment for Multiple Acyl-CoA Dehydrogenase Deficiency? (4)

A
  1. Limitation of protein and fat in the diet
  2. Avoidance of prolonged fasting
  3. High-dose riboflavin
  4. Carnitine supplementation
24
Q

[Met/OA/MADD]

Current term of Glutaric Acidemia II?

A

Multiple Acyl-CoA Dehydrogenase Deficiency

25
Q

[Met/OA/MADD]

Synonyms for Multiple Acyl-CoA Dehydrogenase Deficiency (MADD)? (2)

A

Electron Transfer Flavoprotein Dehydrogenase Deficiency
Glutaric Acidemia II or aciduria II

3. Metabolism (14 decks)

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