Ornithine Transcarbamylase Deficiency
- Pyruvate Dehydrogenase Deficiency
- Pyruvate Kinase Deficiency
- G6PD Deficiency
- Essential Fructosuria
- Hereditary Fructose Intolerance
- Galactokinase Deficiency
- Lactase Deficiency
- Ornithine Transcarbamylase Deficiency
- Phenylketonuria (PKU)
- Maple Syrup Urine Disease
- Propionic Acidemia
- Lesch-Nyhan Syndrome
- Systemic Primary Carnitine Deficiency
- MCAD Deficiency
Ornithine Transcarbamylase Deficiency is the most common disorder of the Urea Cycle.
Inherited in an X-linked recessive pattern, affected patients will have elevated ammonia (hyperammonemia), manifesting as lethargy and asterixis. Other laboratory findings include a decreased BUN, elevated carbamoyl phosphate, and elevated orotic acid.
Find Ornithine Transcarbamylase Deficiency and more Metabolic Disorders among Pixorize's visual mnemonics for the USMLE Step 1 and NBME Shelf Exams.