MMA is an autosomal recessive inherited inborn error of metabolism, characterized by recurrent episodes of vomiting, lethargy, profound ketoacidosis, hyperammonemia, and pancytopenia in infancy, and may cause early death.
42.
Gahl studies rare inborn errors of metabolism through the observation and treatment of patients in the clinic and through biochemical, molecular biological, and cell biological investigations in the laboratory.
43.
In 1908, the core of this work was presented as the Croonian Lectures to the Royal College of Physicians, entitled Inborn Errors of Metabolism and published the following year.
44.
The researchers, who attended a meeting of the Society for the Study of Inborn Errors of Metabolism, held in Edinburgh, are following 100 boys who have inherited the adrenoleukodystrophy gene.
45.
"' Creatine transporter defect ( CTD ) "'is an inborn error of creatine metabolism in which creatine is not properly transported to the brain and muscles due to defective creatine transporters.
46.
If the patient has inborn errors in the methyltransfer pathway ( cobalamin C disease, combined methylmalonic aciduria and homocystinuria ), treatment with intravenous, intramuscular hydroxocobalamin or transdermal B 12 is needed.
47.
DHFR mutations cause a rare autosomal recessive inborn error of folate metabolism that results in megaloblastic anemia, pancytopenia and severe cerebral folate deficiency which can be corrected by folinic acid supplementation.
48.
The Canadian Association of Centres for the Management of Hereditary Metabolic Diseases is commonly referred to as the Garrod Association to honor his contributions to the field of inborn errors of metabolism.
49.
On initial screening, which often involves measuring the concentration of galactose in blood, classic galactosemia may be indistinguishable from other inborn errors of galactose metabolism, including galactokinase deficiency and galactose epimerase deficiency.
50.
Mutations in the THLHE gene causes Epsilon-trimethyllysine hydroxylase deficiency ( TMLHED ), an inborn error of metabolism in carnitine biosynthesis, which is increased with risks for developing autism-related behaviours and Autism spectrum disorders
