Ornithine transcarbamylase deficiency
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Ornithine transcarbamylase deficiency
Genetics
Population genetics
Mendelian genetics and punnett squares
Hardy-Weinberg equilibrium
Inheritance patterns
Independent assortment of genes and linkage
Evolution and natural selection
Genetic disorders
Down syndrome (Trisomy 21)
Edwards syndrome (Trisomy 18)
Patau syndrome (Trisomy 13)
Fragile X syndrome
Huntington disease
Myotonic dystrophy
Friedreich ataxia
Turner syndrome
Klinefelter syndrome
Prader-Willi syndrome
Angelman syndrome
Beckwith-Wiedemann syndrome
Cri du chat syndrome
Williams syndrome
Alagille syndrome (NORD)
Achondroplasia
Polycystic kidney disease
Familial adenomatous polyposis
Familial hypercholesterolemia
Hereditary spherocytosis
Huntington disease
Li-Fraumeni syndrome
Marfan syndrome
Multiple endocrine neoplasia
Myotonic dystrophy
Neurofibromatosis
Treacher Collins syndrome
Tuberous sclerosis
von Hippel-Lindau disease
Albinism
Polycystic kidney disease
Cystic fibrosis
Friedreich ataxia
Gaucher disease (NORD)
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
Hemochromatosis
Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)
Krabbe disease
Leukodystrophy
Niemann-Pick disease types A and B (NORD)
Niemann-Pick disease type C
Primary ciliary dyskinesia
Phenylketonuria (NORD)
Sickle cell disease (NORD)
Tay-Sachs disease (NORD)
Alpha-thalassemia
Beta-thalassemia
Wilson disease
Fragile X syndrome
Alport syndrome
X-linked agammaglobulinemia
Fabry disease (NORD)
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Hemophilia
Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
Lesch-Nyhan syndrome
Muscular dystrophy
Ornithine transcarbamylase deficiency
Wiskott-Aldrich syndrome
Mitochondrial myopathy
Autosomal trisomies: Pathology review
Muscular dystrophies and mitochondrial myopathies: Pathology review
Miscellaneous genetic 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
2020
2019
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
External Links
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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