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Inborn Errors of Proline Metabolism

Mitsubuchi, Hiroshi ; Nakamura, Kimitoshi ; Matsumoto, Shiro ; Endo, Fumio

The Journal of nutrition, 2008-10, Vol.138 (10), p.2016S-2020S [Periódico revisado por pares]

Bethesda, MD: American Society for Nutrition

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Título:
Inborn Errors of Proline Metabolism
Autor: Mitsubuchi, Hiroshi ; Nakamura, Kimitoshi ; Matsumoto, Shiro ; Endo, Fumio
Assuntos: 1-Pyrroline-5-Carboxylate Dehydrogenase - deficiency ; 1-Pyrroline-5-Carboxylate Dehydrogenase - genetics ; 1-Pyrroline-5-Carboxylate Dehydrogenase - metabolism ; amino acid metabolism ; Amino Acid Metabolism, Inborn Errors - genetics ; Amino Acid Metabolism, Inborn Errors - metabolism ; autosomes ; Biological and medical sciences ; chromosome elimination ; Chromosome Mapping ; Citric Acid Cycle ; congenital abnormalities ; delta-1-Pyrroline-5-Carboxylate Reductase ; Dipeptidases - deficiency ; Dipeptidases - genetics ; Dipeptidases - metabolism ; enzyme activity ; enzyme deficiencies ; Feeding. Feeding behavior ; Fundamental and applied biological sciences. Psychology ; Gene Deletion ; genetic disorders ; Humans ; hydroxyproline ; hyperhydroxyprolinemia ; hyperprolinemia type I ; hyperprolinemia type I I ; inherited metabolic diseases ; Mental Disorders - genetics ; Nervous System Diseases - genetics ; nutrient deficiencies ; proline ; Proline - metabolism ; proline dipeptidase ; Proline Oxidase - deficiency ; Proline Oxidase - genetics ; Proline Oxidase - metabolism ; proline oxidase gene ; Pyrroline Carboxylate Reductases - deficiency ; Pyrroline Carboxylate Reductases - genetics ; Pyrroline Carboxylate Reductases - metabolism ; recessive genes ; urea cycle enzymes ; Vertebrates: anatomy and physiology, studies on body, several organs or systems
É parte de: The Journal of nutrition, 2008-10, Vol.138 (10), p.2016S-2020S
Descrição: L-Proline concentration is primarily related to the balance of enzymatic activities of proline dehydrogenase [proline oxidase (POX)] and Δ-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 metabolism have been described. Hyperprolinemia type I (HPI) is a result of a deficiency in POX. The POX gene (PRODH) is located on chromosome 22 (22q11.2) and this region is deleted in velo-cardio-facial syndrome, a congenital malformation syndrome. In addition, this gene locus is related to susceptibility to schizophrenia. The other type of hyperprolinemia is HPII. It is caused by a deficiency in P5C dehydrogenase activity. Hypoprolinemia, on the other hand, is found in the recently described deficiency of P5C synthetase. This enzyme defect leads to hyperammonemia associated with hypoornithinemia, hypocitrullinemia, and hypoargininemia other than hypoprolinemia. Hyperhydroxyprolinemia is an autosomal recessive inheritance disorder caused by the deficiency of hydroxyproline oxidase. There are no symptoms and it is believed to be a benign metabolic disorder. The deficiency of ornithine aminotransferase causes transient hyperammonemia during early infancy due to deficiency of ornithine in the urea cycle. In later life, gyrate atrophy of the retina occurs due to hyperornithinemia, a paradoxical phenomenon. Finally, prolidase deficiency is a rare autosomal recessive hereditary disease. Prolidase catalyzes hydrolysis of dipeptide or oligopeptide with a C-terminal proline or hydroxyproline and its deficiency can cause mental retardation and severe skin ulcers.
Editor: Bethesda, MD: American Society for Nutrition
Idioma: Inglês

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Inborn Errors of Proline Metabolism

Mitsubuchi, Hiroshi ; Nakamura, Kimitoshi ; Matsumoto, Shiro ; Endo, Fumio

Bethesda, MD: American Society for Nutrition

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