Ornithine transcarbamylase deficiency
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Ornithine transcarbamylase deficiency
Biochemistry
Biochemistry and metabolism
Amino acid metabolism
Nitrogen and urea cycle
Citric acid cycle
Electron transport chain and oxidative phosphorylation
Gluconeogenesis
Glycogen metabolism
Glycolysis
Pentose phosphate pathway
Physiological changes during exercise
Cholesterol metabolism
Fatty acid oxidation
Fatty acid synthesis
Ketone body metabolism
Metabolic disorders
Alkaptonuria
Cystinuria (NORD)
Hartnup disease
Homocystinuria
Maple syrup urine disease
Ornithine transcarbamylase deficiency
Phenylketonuria (NORD)
Essential fructosuria
Galactosemia
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Hereditary fructose intolerance
Lactose intolerance
Pyruvate dehydrogenase deficiency
Abetalipoproteinemia
Familial hypercholesterolemia
Hyperlipidemia
Hypertriglyceridemia
Glycogen storage disease type I
Glycogen storage disease type II (NORD)
Glycogen storage disease type III
Glycogen storage disease type IV
Glycogen storage disease type V
Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)
Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
Fabry disease (NORD)
Gaucher disease (NORD)
Krabbe disease
Leukodystrophy
Metachromatic leukodystrophy (NORD)
Niemann-Pick disease type C
Niemann-Pick disease types A and B (NORD)
Tay-Sachs disease (NORD)
Cystinosis
Disorders of amino acid metabolism: Pathology review
Disorders of carbohydrate metabolism: Pathology review
Disorders of fatty acid metabolism: Pathology review
Dyslipidemias: Pathology review
Glycogen storage disorders: Pathology review
Lysosomal storage disorders: Pathology review
Assessments
Ornithine transcarbamylase deficiency
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USMLE® Step 1 questions
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High Yield Notes
7 pages
Flashcards
Ornithine transcarbamylase deficiency
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USMLE® Step 1 style questions USMLE
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External References
First Aid
2022
2021
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2018
2017
2016
Ammonia
Ornithine transcarbamylase deficiency p. 81
BUN (blood urea nitrogen)
ornithine transcarbamylase deficiency p. 81
Ornithine transcarbamylase deficiency p. 59, 81
Urea cycle p. 80
ornithine transcarbamylase deficiency and p. 81
Summary
Ornithine transcarbamylase deficiency (OTC deficiency) is an x-linked genetic disorder characterized by a deficiency of the enzyme ornithine transcarbamylase. OTC enzyme is responsible for breaking down excess ammonia, a byproduct of protein metabolism, and is normally eliminated by the liver. When OTC deficiency is present, ammonia builds up in the body, which can lead to serious health problems.
Symptoms of OTC deficiency may include vomiting, diarrhea, lethargy, and poor feeding in infants, and later in life, intellectual disability and behavioral problems may develop. OTC deficiency is typically diagnosed in newborns through screening tests, and treatment may involve a low-protein diet, medications to reduce ammonia levels, and liver transplantation.
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