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Medical Biochemistry > Aminoacidopathy > Flashcards

Aminoacidopathy Flashcards

1
Q

Main amino acid affected: Phenylketonuria

A

Phenylalanine

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2
Q

Defective enzyme: Phenylketonuria

A

phenylalanine hydroxylase

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3
Q

Toxic product build-up: Phenylketonuria

A

Phenylalanine & its toxic metabolites- phenylpyruvate

Tyrosine is low

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4
Q

Associated Symptoms: Phenylketonuria

A
  • progressive development delay
    • microcephaly, mental retardation, seizures, hyperactivity
  • Musty odor (from phenylacetate)
  • Hypopigmentation (tyrosine is not converted to melanin)
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5
Q

Main Amino Acid affected: Tyrosinemia- Type 1

A

Tyrosine

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6
Q

Defective enzyme/transporter: Tyrosinemia- Type 1

A

fumarylacetoacetate hydrolase (5)

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7
Q

Toxic product build up: Tyrosinemia- Type 1

A
  • Succinylacetoacetate
  • Succinylacetone (liver & kidney toxin)
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8
Q

Associated Symptom: Tyrosinemia- Type 1

A
  • “cabbage-like” odor
  • failure to thrive
  • rickets
  • liver & kidney failure if untreated
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9
Q

Main amino acid affected: Alkaptonuria

A

Tyrosine

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10
Q

Defective enzyme/transporter: Alkaptonuria

A

homogentisic acid oxidse (3)

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11
Q

Toxic product built-up: Alkaptonuria

A

Homogentisic acid (HGA)

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12
Q

Associated Symptoms: Alkaptonuria

A
  • patient’s urine turns brownish-black when exposed to air due to darkening of HGA by oxidation
  • Ochronosis: blue-black HGA pigment deposited in skin & sclera
  • Arthritis of weight bearing joints: HGA pigment deposited in connective tissue and cartilage
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13
Q

Main amino acid affected: Homocysteinuria

A

Methionine & cysteine

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14
Q

Defective enzyme: Homocysteinuria

A

cystathionine synthase

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15
Q

Toxic product built-up: Homocysteinuria

A

Homocysteine & methionine

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16
Q

Associated symptoms: Homocysteinuria

A

thrombosis

17
Q

Main amino acids affected: Maple Syrup urine disease

A

Leucine, Isoleucine, Valine

18
Q

Defective Enzyme: Maple Syrup urine disease

A

“branched-chain alpha keto acid decarboxylase/ dehydrogenase complex”

19
Q

Toxic product built-up: maple syrup urine disease

A

byproducts of Leu, Ile, and Val (branch chain keto acids)

accumulate in blood, urine, and CSF

20
Q

Associated symptoms: Maple Syrup urine disease

A
  • burned sugar or maple syrup odor of urine, breath & skin
  • Ketoacidosis
  • hypoglycemia
21
Q

Toxic product built up: Propionic acidemia

A

Propional Co-A

22
Q

Associated symptoms: Propionic acidemia

A
  • metabolic acidosis
  • ketonuria
  • hypoglycemia
  • hyperammonia
23
Q

Toxic product built-up: Methylmalonic acidemia

A

Methylmalonyl Co-A

24
Q

Associated symptoms: Methylmalonic acidemia

A
  • metabolic acidosis
  • ketonuria
  • hypoglycemia
  • hyperammonia
25
Q

Toxic product built-up: Isovaleric acidemia

A

Isovaleryl Co-A

26
Q

Associated symptoms: Isovaleric acidemia

A

“sweaty feet odor”

27
Q

Main Amino acid affected: Citrullinemia Type 1

28
Q

Defective enzyme: Citrullinemia Type 1

A

mutation causes arginine-succinate synthase deficiency

29
Q

Toxic product built-up: Citrullinemia Type 1

A

Citrulline

30
Q

Associated symptoms: Citrullinemia Type 1

A
  • Neonatal
  • hyperammonia
31
Q

Main amino acid affected: Citrullinemia Type 2

32
Q

Defective transporter: Citrullinemia Type 2

A

defect in transport protein citrin

33
Q

Toxic product built-up: Citrullinemia Type 2

A

Citrulline

34
Q

Associated Symptoms: Citrullinemia Type 2

A
  • adult onset
  • hyperammonia
35
Q

Main amino acid affected: Argininosuccinic aciduria

36
Q

Defective enzyme: Argininosuccinic aciduria

A

Argininesuccinate lyase

37
Q

Toxic product built-up: Argininosuccinic aciduria

A

Argininosuccinate

Medical Biochemistry (2 decks)

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