Hereditary Hyperammonemia Flashcards

1
Q

Reason

A

insufficient urea cycle

alphaKG used for removal of ammonia -> TCA depleted -> low ATP level -> coma

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2
Q

Treatment

A
  1. limited protein intake
  2. inhibition of bacterial ammonia release in colon
  3. administration of AA binding chemicals: benzoate, phenyl acetate
  4. replacing the missing intermediates
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3
Q

Type 1

A

CP synthetase 1 deficiency
mental retardation
-Arg supplementation

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4
Q

Type 2

A

ornithine transcarbamoylase deficiency
mental retardation, early death
orotic aciduria

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5
Q

Other metabolic diseases

A
Arginosuccinate synthetase deficiency:
-citrullinemia
-Arg supplementation
Arginosuccinate lyase deficiency:
-arginosuccinate excretion
-Arg supplementation
Arginase deficiency:
-high Arg level
-abnormalities in development of CNS
-Arg free diet
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