Abstract
Phephenylketonuria (PKU) is caused by an accumulation of phenylalanine in blood and tissue due to phenylalaninehydroxylase enzyme deficiency, which means that phenylalanine, an essential amino acid, cannot be converted to tyrosine. The accumulation of phenylalanine in nonbrain tissues and the decreased production of tyrosine can cause various clinical symptoms. Catecholamines are synthesized via a series of reactions initiated by tyrosine 3,4-dihydroxyphenylalanine hydroxylation. And in the absence of tyrosine, the synthesis of epinephrine can be reduced. There appear to be no studies in the present literature on non-neurological symptoms associated with decreased catecholamine synthesis in patients with PKU. In the present case, we described a severe bronchospasm in a child with PKU during general anesthesia. Further research is needed to confirm whether the bronchospasm that occurred in this case was due to a lack of catecholamine induced by PKU. A link between a deficiency of catecholamines, which are required for neuronal and hormonal control, and pulmonary findings in PKU can be established with clinical and experimental studies. |
References
- Al Hafid, N., Christodoulou, J., 2015. Phenylketonuria: A review of current and future treatments. Transl. Pediatr. 4, 304-317.
- Bilder, D.A., Burton, B.K., Coon, H., Leviton, L., Ashworth, J., Lundy, B.D., Vespa, H., Bakian, A.V., Longo, N., 2013. Psychiatric symptoms in adults with phenylketonuria. Mol. Genet. Metab. 108, 155-160.
- Dinh, Q.T., Groneberg, D.A., Witt, C., Peiser, C., Cifuentes, L.B., Frossard, N., Klapp, B.F., Fischer, A., 2004. Expression of tyrosine hydroxylase and neuropeptid etyrosine in Mouse sympatheticairway-specificneuronsunder normal situation and allergic airway inflammation. Clin. Exp. Allergy. 34, 1934-1941.
- Dinh, Q.T., Mingomataj, E., Quarcoo, D., Groneberg, D.A., Witt, C., Klapp, B.F., Braun, A., Fischer, A., 2005. Allergic airway inflammation induce stachykin in peptides expression in vagal sensory neurons innervating mouse airways. Clin. Exp. Allergy. 35, 820-825.
- Giovannini, M.,Verduci, E., Salvatici, E., Fiori, L., Riva, E., 2007. Phenylketonuria: Dietary and therapeutic challenges. J. Inherit. Metab. Dis. 30, 145-152.
- de Jongste, J.C., Jongejan, R.C., Kerrebijn, K.F., 1991. Control of airway caliberbyautonomic nerves in asthma and in chronic obstructive pulmonary disease. Am. Rev. Respir. Dis. 143, 1421-1426.
- Ney, D.M., Blank, R.D., Hansen, K.E., 2014. Advances in the nutritional and pharmacological management of phenylketonuria. Curr. Opin. Clin. Nutr. Metab. Care. 17, 61-68.
- Scriver, C.R., 2007. The PAH gene, phenylketonuria, and a paradigmshift. Hum. Mutat. 28, 831-845.
- Williams, R.A., Mamotte, C.D., Burnett, J.R., 2008. Phenylketonuria: An inborn error of phenylalanin emetabolism. Clin. Biochem. Rev. 29, 31-41.
- Vockley, J., Andersson, H.C., Antshel, K.M., Braverman, N.E., Burton, B.K., Frazier, D.M., Mitchell, J., Smith, W.E., Thompson, B.H., Berry, S.A., 2014. Phenylalanin ehydroxylase deficiency: Diagnosis and management guideline. Genet. Med. 16, 188- 200.
Abstract
References
- Al Hafid, N., Christodoulou, J., 2015. Phenylketonuria: A review of current and future treatments. Transl. Pediatr. 4, 304-317.
- Bilder, D.A., Burton, B.K., Coon, H., Leviton, L., Ashworth, J., Lundy, B.D., Vespa, H., Bakian, A.V., Longo, N., 2013. Psychiatric symptoms in adults with phenylketonuria. Mol. Genet. Metab. 108, 155-160.
- Dinh, Q.T., Groneberg, D.A., Witt, C., Peiser, C., Cifuentes, L.B., Frossard, N., Klapp, B.F., Fischer, A., 2004. Expression of tyrosine hydroxylase and neuropeptid etyrosine in Mouse sympatheticairway-specificneuronsunder normal situation and allergic airway inflammation. Clin. Exp. Allergy. 34, 1934-1941.
- Dinh, Q.T., Mingomataj, E., Quarcoo, D., Groneberg, D.A., Witt, C., Klapp, B.F., Braun, A., Fischer, A., 2005. Allergic airway inflammation induce stachykin in peptides expression in vagal sensory neurons innervating mouse airways. Clin. Exp. Allergy. 35, 820-825.
- Giovannini, M.,Verduci, E., Salvatici, E., Fiori, L., Riva, E., 2007. Phenylketonuria: Dietary and therapeutic challenges. J. Inherit. Metab. Dis. 30, 145-152.
- de Jongste, J.C., Jongejan, R.C., Kerrebijn, K.F., 1991. Control of airway caliberbyautonomic nerves in asthma and in chronic obstructive pulmonary disease. Am. Rev. Respir. Dis. 143, 1421-1426.
- Ney, D.M., Blank, R.D., Hansen, K.E., 2014. Advances in the nutritional and pharmacological management of phenylketonuria. Curr. Opin. Clin. Nutr. Metab. Care. 17, 61-68.
- Scriver, C.R., 2007. The PAH gene, phenylketonuria, and a paradigmshift. Hum. Mutat. 28, 831-845.
- Williams, R.A., Mamotte, C.D., Burnett, J.R., 2008. Phenylketonuria: An inborn error of phenylalanin emetabolism. Clin. Biochem. Rev. 29, 31-41.
- Vockley, J., Andersson, H.C., Antshel, K.M., Braverman, N.E., Burton, B.K., Frazier, D.M., Mitchell, J., Smith, W.E., Thompson, B.H., Berry, S.A., 2014. Phenylalanin ehydroxylase deficiency: Diagnosis and management guideline. Genet. Med. 16, 188- 200.
Details
| Journal Section | Basic Medical Sciences |
|---|---|
| Authors | |
| Publication Date | January 6, 2017 |
| Submission Date | January 4, 2017 |
| Acceptance Date | April 12, 2015 |
| Published in Issue | Year 2016 Volume: 33 Issue: 3 |
Cite
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.