Riboflavin Deficiency—Implications for General Human Health and Inborn Errors of Metabolism
نویسندگان
چکیده
منابع مشابه
Garrod'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 ...
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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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structural lipid and a precursor molecule for bile acid and steroid hormone synthesis. In addition, this ubiquitous lipid is now known to contribute fundamentally to the development and function of the CNS and the bones, and, as detailed in other articles in this Perspective series, it plays major roles in signal transduction, sperm development, and embryonic morphogenesis. Over the past decade...
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Garrod,4 in I908, introduced the term ' inborn errors of metabolism' to describe biochemical abnormalities which were genetically determined, present throughout life and relatively non-lethal. He suggested that it would ultimately be possible to attribute the biochemical aberrations found in these conditions to specific enzyme defects. Recent work5 has confirmed the validity of Garrod's ideas t...
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ژورنال
عنوان ژورنال: International Journal of Molecular Sciences
سال: 2020
ISSN: 1422-0067
DOI: 10.3390/ijms21113847