Soto-Larracoechea MM

Language: Spanish
References: 17
Page: 105-109
PDF size: 448.20 Kb.

ABSTRACT

Introduction: Phenylketonuria is the most common inborn disorder of amino acid metabolism; if it is not diagnosed and treated early, irreversible mental retardation will result. Management should be multidisciplinary, in which rehabilitation plays an important role. Clinic case: Female patient came to Centro de Rehabilitación Infantil Teletón Oaxaca due to psychomotor retardation. She began therapies at two years of age, and was evaluated every two months by the rehabilitation service. Study protocol was initiated (in an external medical institution), and at two years and seven months of age she was referred to Instituto Nacional de Pediatría, where diagnosis of phenylketonuria was confirmed and treatment started. After one year of rehabilitation management, and five months of phenylketonuria treatment, she has favorable changes in her psychomotor development and behavior. Conclusions: Diagnosis and treatment before one month of age can prevent disability in these children. An optimal rehabilitation program can improve functionality, independence, and quality of life for these patients.

REFERENCES

2. Guillén-López S, Vela-Amieva M. Actualidades en el tratamiento nutricional de la fenilcetonuria. Acta Pediatr Mex. 2011; 32(2): 107-114.

3. Widaman KF. Phenylketonuria in children and mothers: genes, environments, behavior. Curr Dir Psychol Sci. 2009; 18(1): 48-52.

4. Williams RA, Mamotte CDS, Burnett JR. Phenylketonuria: an inborn error of phenylalanine metabolism. Clin Biochem Rev. 2008; 29: 31-41.

5. Alderete MS, Méndez RM, Monzón MF, Méndez GA. Avances terapéuticos en fenilcetonuria. Rev Postgrado Vía Cátedra Med. 2006; 154: 21-23.

6. Becerra FC. Hipotiroidismo congénito y fenilcetonuria en el niño. Rev Chil Pediatr. 2008; 79(Supl. 1): 96-102.

7. Yalaz K, Vanli L, Yilmaz E, Tokatli A, Anlar B. Phenylketonuria in pediatric neurology practice: a series of 146 cases. J Child Neurol. 2006; 21: 987-990.

8. da Silva GK, Lamônica DA. Performance of children with phenylketonuria in the developmental screening test-denver II (original title: Desempenho de crianças com fenilcetonúria no teste de screening de desenvolvimento denver-II). Pró-Fono R Atual Cient. 2010; 22(3): 345-350.

9. Harding CO, Blau N. Advances and challenges in phenylketonuria. J Inherit Metab Dis. 2010; 33: 645-648.

10. Segovia LS, Ortiz OE. Evaluación del desempeño funcional de pacientes con parálisis cerebral severa con el instrumento WeeFIM en el CRIT Estado de México. Rev Mex Med Fis Rehab. 2005; 17(2): 54-59.

11. Pereda-Torales L, Calcáneo-García JA, Enríquez-Torrecilla R, Badillo-Báez EM, Soler-Huerta E. Identificación de un caso de fenilcetonuria a través del tamizaje neonatal. Bol Med Hosp Infant Mex. 2008; 65: 290-296.

12. Vela-Amieva M, Ibarra-González I, Monroy-Santoyo S, Fernández-Laínez Cet al. Modelo de atención inicial de la fenilcetonuria y otras hiperfenilalaninemias en el Instituto Nacional de Pediatría. Acta Pediatr Mex. 2010; 31(6): 297-303.

13. Velázquez A, Vela-Amieva M, Naylor EW, Chace DH. Resultados del tamiz neonatal ampliado, como nueva estrategia para la prevención de los defectos al nacimiento. Rev Mex Pediatr. 2000; 67(5): 206-213.

14. Soyupek F, Koyuncuoglu H, Cindas A, Ilgun E, Tak R. The rehabilitation programme of an adult phenylketonuria with upper motor neuron involvement. J Back Musculoskelet. 2009; 22: 49-53.

15. Mazur A, Jarochowicz S, Ołtarzewski M, Sykut-Cegielska J, Kwolek A, O’Malley G. Measurement of functional independence level and falls-risk in individuals with undiagnosed phenylketonuria. Acta Biochim Polon. 2009; 56(4): 613-618.

16. Targum SD, Lang W. Neurobehavioral problems associated with phenylketonuria. Psychiatry. 2009; 7(12): 29-32.

17. Vela-Amieva M, Ibarra-González I, Belmont-Martínez L, Fernández-Lainez C et al. Historia de la fenilcetonuria. Acta Pediatr Mex. 2011; 32(5): 281-286.