Biopterin-deficient hyperphenylalaninemia: Diagnosis and treatment
Abstract
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.
About the Authors
E. A. Nikolaeva
Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University, Moscow
Russian Federation
Russian Federation
M. I. Yablonskaya
Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University, Moscow
Russian Federation
Russian Federation
M. N. Kharabadze
Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University, Moscow
Russian Federation
Russian Federation
Yu. I. Davydova
Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University, Moscow
Russian Federation
Russian Federation
O. N. Komarova
Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University, Moscow
Russian Federation
Russian Federation
P. V. Novikov
Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University, Moscow
Russian Federation
Russian Federation
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Review
For citations:
Nikolaeva E.A., Yablonskaya M.I., Kharabadze M.N., Davydova Yu.I., Komarova O.N., Novikov P.V. Biopterin-deficient hyperphenylalaninemia: Diagnosis and treatment. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2015;60(2):66-71. (In Russ.)
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