MLTS 1453 - Ch. 4: In Born Errors of Metabolism

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Last updated 4:09 PM on 9/2/26
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11 Terms

1
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Disorders of Carbohydrate Metabolism

  • glycogen storage disease

  • G6PD deficiency


2
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Disorders of Amino Acid Metabolism

  • phenylketonuria

  • tyrosinemia

  • maple syrup urine disease

  • glutamic acidemia type 1


3
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Urea Cycle Disorder (or Urea Cycle Defects)

  • carbamoyl phosphate synthetase I deficiency

  • citrullinemia type II (citrin deficiency)


4
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Disorders of Organic Acid Metabolism (Organic Acidurias)

  • alkaptonuria

  • combine masonic and methylmalonic acuduria (CMAMMA)

  • 2-hydroxyglutaric ccidurias


5
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Disorders of Steroid Metabolism

  • lipoid congenital adrenal hyperplasia

  • congenital adrenal hyperplasia


6
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Disorders of Fatty Acid Oxidation and Mitochondrial Metabolism

medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD)


7
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Disorders of Porphyrin Metabolism

acute intermittent porphyria

8
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Disorders of Purine or Pyrimidine Metabolism

  • Lesch-Nyhan syndrome

  • AMPD1 deficiency (MADD)


9
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Disorders of Mitochondrial Function

Kearns-Sayre syndrome

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Disorders of Peroxisomal Function

Zellweger syndrome

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Lysosomal Storage Disorders

  • Gaucher’s disease

  • Niemann-Pick disease