Inborn errors of metabolism are not typically associated with malformation and subsequent cases have lacked such physical manifestations.
12.
Phenylketonuria, also known as PKU, is an inborn error of metabolism that can induce neurodevelopmental disorders in children.
13.
People with methylmalonyl CoA mutase deficiency exhibit many symptoms similar to other diseases involving inborn errors of metabolism.
14.
The failure to effectively use these molecules accounts for the majority of the inborn errors of human carbohydrates metabolism.
15.
Many pediatric endocrinologists have interests and expertise in bone metabolism, lipid metabolism, adolescent gynecology, or inborn errors of metabolism.
16.
This is an autosomal recessive inborn error of metabolism that results from the markedly deficient activity of uroporphyrinogen III synthase.
17.
When cases occur now, doctors are urged to look for a genetic disorder known as an inborn error of metabolism.
18.
Inborn errors in CBS result in hyperhomocysteinemia with complications in the cardiovascular system leading to early and aggressive arterial disease.
19.
Also, some inborn errors of metabolism are associated with autism, but probably account for less than 5 % of cases.
20.
The insufficiency of L-xylulose reductase activity causes an inborn error of metabolism disease characterized by excessive urinary excretion of L-xylulose.
