Inborn errors of metabolism are inherited defects in biosynthesis, catabolism, or transport of lipids, amino acids, or carbohydrates. The first presentation of an inborn error of met...
Evidence of systemic disease: A variety of systemic newborn illnesses, including sepsis, can be complicated by secondary hyperammonemia.
Family history of poorly explained pediatric de...
Specific therapies are best carried out under the supervision of a metabolic specialist and a metabolic nutritionist. Goal of every long-term treatment is to achieve a protein-sparing ana...
Champion MP. An approach to the diagnosis of inherited metabolic disease. Arch Dis Child Educ Pract Ed. 2010;95(2):40–46. [View Abstract on OvidInsights]
Ficicioglu C, Bearden ...
277.89 Other specified disorders of metabolism
270.6 Disorders of urea cycle metabolism
271.1 Galactosemia
277.85 Disorders of fatty acid oxidation
E...
Q: Can females have OTC deficiency?
A: OTC is an X-linked gene, and females are generally asymptomatic carriers. However, due to “skewed” X inactivation of the OTC gene, affected female may exhibit...
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