Dietary guidelines for inborn errors of metabolism
نویسندگان
چکیده
منابع مشابه
Dietary management of inborn errors of metabolism.
Inborn errors of metabolism are individually rare but are an important cause of mortality and morbidity in infants and children. Dietary therapy is the mainstay of treatment in phenylketonuria, maple syrup urine disease, homocystinuria, galactosemia and glycogen storage disease (Type I/III). Some disorders like urea cycle disorders and organic acidurias require dietary modification in addition ...
متن کاملThe dietary treatment of inborn errors of metabolism.
In the course of evolution, man has acquired digestive enzymes that split complex food components to simpler, absorbable molecules, biosynthetic enzymes that reform complex body components and degradative enzymes that catabolize these components. Each enzyme is a protein and its biosynthesis is under genetic control. Mutation of the gene coded for the enzyme, or for one polypeptide where an enz...
متن کاملGarrod's Inborn Errors of Metabolism
Dr. Van Liere's earlier book on this subject* was probably the first detailed study of the biology of low oxygen pressure. Investigations of the effect of high altitude, using mountain climbing or balloon ascent as a tool, go back to the late eighteenth century, but the major impetus seems to have been the need for military aviation in World War I. This interest was maintained until about 1935 ...
متن کاملInborn errors of metabolism: iron.
The iron content of the body is normally closely regulated. Despite this, iron deficiency anaemia is common in women because iron losses due to menstruation and childbirth are not always compensated for by iron absorption from the diet. The role of transferrin in delivering iron to cells and of ferritin in storing iron within cells is well understood but the proteins involved in iron transport ...
متن کاملInborn errors of proline metabolism.
l-Proline concentration is primarily related to the balance of enzymatic activities of proline dehydrogenase [proline oxidase (POX)] and Delta-1-pyrroline-5-carboxylate (P5C) reductase. As a result, P5C plays a pivotal role in maintaining the concentration of proline in body fluids and inborn errors of P5C metabolism lead to disturbance of proline metabolism. Several inborn errors of proline me...
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ژورنال
عنوان ژورنال: The Journal of Pediatrics
سال: 2017
ISSN: 0022-3476
DOI: 10.1016/j.jpeds.2017.07.020