000			03279na a2200301 4500
003			H12O
005			20180113071324.0
008			130622s2012 xxx||||| |||| 00| 0 eng d
040			_cH12O
041			_aeng
100			_9791 _aBaro Fernández, María _ePediatría
100			_9657 _aGarcía Silva, María Teresa _eUnidad de Enfermedades Metabólicas y Mitocondriales
100			_91158 _aMartín Hernández, Elena _eUnidad de Enfermedades Metabólicas y Mitocondriales
100			_aOliveros Leal, Liliana _91160 _ePediatría
100			_aPérez Alonso, Vanessa _91349 _ePediatría
100			_aQuijada Fraile, Pilar _91159 _ePediatría
100			_aVivanco Martínez, José Luis _9815 _ePediatría
245	0	0	_aNutritional and Pharmacological Management during Chemotherapy in a Patient with Propionic Acidaemia and Rhabdomyosarcoma Botryoides. _h[artículo]
260			_bJIMD Reports, _c2012
300			_a6:73-8.
500			_aFormato Vancouver: Martín-Hernández E, Quijada-Fraile P, Oliveros-Leal L, García-Silva M, Pérez-Cerdá C, Baro-Fernández M, et al. Nutritional and Pharmacological Management during Chemotherapy in a Patient with Propionic Acidaemia and Rhabdomyosarcoma Botryoides. JIMD Rep. 2012;6:73-8.
501			_aPMID: 23430942
504			_aContiene 26 referencias
520			_aWe present the nutritional and pharmacological management of a 2-year-old girl with a severe form of propionic acidaemia and a genitourinary embryonal rhabdomyosarcoma. This association has not been described before, nor the utilization of chemotherapy in patients with propionic acidaemia.The patient is a girl with neonatal onset of propionic acidaemia, homozygous for the c.2041-2924del3889 mutation in PCCA gene. At 23 months of age she was diagnosed with genitourinary embryonal rhabdomyosarcoma. Conservative surgery, brachytherapy and nine cycles of chemotherapy with iphosphamide, vincristine and actinomycin were recommended by oncologists. Due to the possibility that the child could present decompensations, we elaborated three different courses of treatment: when the patient was stable (treatment 1), intermittent bolus feeding through gastrostomy, containing 70 kcal/kg/day and 1.4 g/kg/day of total protein (0.6 g/kg/day of natural protein and 0.8 g/kg/day of amino acid-based formula) was prescribed; on the chemotherapy-days (treatment 2), diet consisted on continuous feeding, with the same energy and amino acid-based formula but half of natural protein intake; in case of decompensation (treatment 3), we increased by 10% the energy intake, and completely stopped natural protein in the diet but maintaining the amino acid-based formula. On chemotherapy- days carnitine was increased from 100 mg/kg/day to 150 mg/kg/day, and N-carbamylglutamate was added.Through the 7 months with chemotherapy the patient did not suffer decompensations, while she maintained good nutritional status.Enteral continuous feeding by gastrostomy, amino acid-based formula, and preventive use of N-carbamylglutamate during chemotherapy-days are the principal measures we propose in these situations.
710			_9446 _aServicio de Pediatría-Neonatología
856			_uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3565659/ _yAcceso libre
942			_n0 _2ddc _cART
999			_c7990 _d7990