Biopterin-deficient hyperphenylalaninemia: Diagnosis and treatment
| Autor: | E. A. Nikolaeva, M. I. Yablonskaya, M. N. Kharabadze, Yu. I. Davydova, O. N. Komarova, P. V. Novikov |
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| Jazyk: | ruština |
| Rok vydání: | 2016 |
| Předmět: | |
| Zdroj: | Rossijskij Vestnik Perinatologii i Pediatrii, Vol 60, Iss 2, Pp 66-71 (2016) |
| ISSN: | 2500-2228 1027-4065 |
| Popis: | The term phenylketonuria encompasses some genetically heterogeneous diseases from a group of hereditary amino acid metabolic disorders, the key biochemical sign of which is a steady increase in blood phenylalanine levels – hyperphenylalaninemia. Phenylketonuria is a most common disease of the above group; its rate in the Russian Federation is 1:7140 neonates. The rare causes of hyperphenylalaninemia include the cofactor (biopterin-deficient) forms associated with tetrahydrobiopterin deficiency, leading to the blocked metabolic pathways for converting phenylalanine to tyrosine and for synthesizing catecholamine and serotonin precursors (L-dopa and 5-hydroxytryptophan). The distinguishing feature of all cofactor forms of hyperphenylalaninemia is the inefficiency of an isolated low-protein diet. Cofactor therapy with sapropterin in combination with correction of neuromediatory disorders is used in the combination treatment of these patients. The paper presents a case history of a child with severe biopterin-deficient hyperphenylalaninemia resulting from a defect in the PTS gene. The clinical example illustrates difficulties associated with the diagnosis of cofactor hyperphenylalaninemia and with long individual dosage adjustments for medications. |
| Databáze: | OpenAIRE |
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