Amino Acid Synthesis

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Yuji Tokunaga - One of the best experts on this subject based on the ideXlab platform.

Tsuneomi Kawasaki - One of the best experts on this subject based on the ideXlab platform.

T. J. De Koning - One of the best experts on this subject based on the ideXlab platform.

  • Amino Acid Synthesis deficiencies.
    Journal of inherited metabolic disease, 2017
    Co-Authors: T. J. De Koning
    Abstract:

    In recent years the number of disorders known to affect Amino Acid Synthesis has grown rapidly. Nor is it just the number of disorders that has increased: the associated clinical phenotypes have also expanded spectacularly, primarily due to the advances of next generation sequencing diagnostics. In contrast to the “classical” inborn errors of metabolism in catabolic pathways, in which elevated levels of metabolites are easily detected in body fluids, Synthesis defects present with low values of metabolites or, confusingly, even completely normal levels of Amino Acids. This makes the biochemical diagnosis of this relatively new group of metabolic diseases challenging. Defects in the Synthesis pathways of serine metabolism, glutamine, proline and, recently, asparagine have all been reported. Although these Amino Acid Synthesis defects are in unrelated metabolic pathways, they do share many clinical features. In children the central nervous system is primarily affected, giving rise to (congenital) microcephaly, early onset seizures and varying degrees of mental disability. The brain abnormalities are accompanied by skin disorders such as cutis laxa in defects of proline Synthesis, collodion-like skin and ichthyosis in serine deficiency, and necrolytic erythema in glutamine deficiency. Hypomyelination with accompanying loss of brain volume and gyration defects can be observed on brain MRI in all Synthesis disorders. In adults with defects in serine or proline Synthesis, spastic paraplegia and several forms of polyneuropathy with or without intellectual disability appear to be the major symptoms in these late-presenting forms of Amino Acid disorders. This review provides a comprehensive overview of the disorders in Amino Acid Synthesis.

  • Amino Acid Synthesis deficiencies.
    Handbook of clinical neurology, 2013
    Co-Authors: T. J. De Koning
    Abstract:

    Defects in the Synthesis pathways of Amino Acids have only been discovered in recent years and are relatively unknown to most clinicians. In this chapter disorders neurological symptoms caused by genetic defects in the Synthesis of the Amino Acids serine, glutamine and proline are discussed. Patients with serine deficiency invariably suffer from severe neurological symptoms such as microcephaly, psychomotor retardation and intractable seizures. The same is true for patients with a defect in the Synthesis of glutamine who present with hypotonia and epileptic encephalopathy. Patients with a disorder in the Synthesis proline have mental retardation in combination with symptoms of connective tissue disease. All Amino Acids Synthesis disorders, except for one of the proline defects, can be diagnosed by routine Amino Acid analysis. Given the fact that the disorder discussed here lead to deficiencies of Amino Acids opens up possibilities to treat these patients with the Amino Acids that can’t be Synthesised. Prompt recognition and treatment of Amino Acid Synthesis disorders are of outmost importance to obtain satisfactory treatment results.

Naoya Takamatsu - One of the best experts on this subject based on the ideXlab platform.

Shohei Aiba - One of the best experts on this subject based on the ideXlab platform.