Amino acid synthesis deficiencies

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Standard

Amino acid synthesis deficiencies. / De Koning, T. J.

Handbook of Clinical Neurology. The Association for the Study of Animal Behaviour / Elsevier B.V., 2013. s. 1775-1783 (Handbook of Clinical Neurology; Vol. 113).

Forskningsoutput: Kapitel i bok/rapport/Conference proceedingKapitel samlingsverk

Harvard

De Koning, TJ 2013, Amino acid synthesis deficiencies. i Handbook of Clinical Neurology. Handbook of Clinical Neurology, vol. 113, The Association for the Study of Animal Behaviour / Elsevier B.V., s. 1775-1783. https://doi.org/10.1016/B978-0-444-59565-2.00047-2

APA

De Koning, T. J. (2013). Amino acid synthesis deficiencies. I Handbook of Clinical Neurology (s. 1775-1783). (Handbook of Clinical Neurology; Vol. 113). The Association for the Study of Animal Behaviour / Elsevier B.V.. https://doi.org/10.1016/B978-0-444-59565-2.00047-2

CBE

De Koning TJ. 2013. Amino acid synthesis deficiencies. I Handbook of Clinical Neurology. The Association for the Study of Animal Behaviour / Elsevier B.V. s. 1775-1783. (Handbook of Clinical Neurology). https://doi.org/10.1016/B978-0-444-59565-2.00047-2

MLA

De Koning, T. J. "Amino acid synthesis deficiencies". Handbook of Clinical Neurology. Handbook of Clinical Neurology. The Association for the Study of Animal Behaviour / Elsevier B.V. 2013, 1775-1783. https://doi.org/10.1016/B978-0-444-59565-2.00047-2

Vancouver

De Koning TJ. Amino acid synthesis deficiencies. I Handbook of Clinical Neurology. The Association for the Study of Animal Behaviour / Elsevier B.V. 2013. s. 1775-1783. (Handbook of Clinical Neurology). https://doi.org/10.1016/B978-0-444-59565-2.00047-2

Author

De Koning, T. J. / Amino acid synthesis deficiencies. Handbook of Clinical Neurology. The Association for the Study of Animal Behaviour / Elsevier B.V., 2013. s. 1775-1783 (Handbook of Clinical Neurology).

RIS

TY - CHAP

T1 - Amino acid synthesis deficiencies

AU - De Koning, T. J.

PY - 2013/1/1

Y1 - 2013/1/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=84876849391&partnerID=8YFLogxK

U2 - 10.1016/B978-0-444-59565-2.00047-2

DO - 10.1016/B978-0-444-59565-2.00047-2

M3 - Book chapter

AN - SCOPUS:84876849391

T3 - Handbook of Clinical Neurology

SP - 1775

EP - 1783

BT - Handbook of Clinical Neurology

PB - The Association for the Study of Animal Behaviour / Elsevier B.V.

ER -