Nutritional and Pharmacological Management during Chemotherapy in a Patient with Propionic Acidaemia and
E Martín-Hernández1, P Quijada-Fraile, L Oliveros-Leal
1Unidad Pediátrica de Enfermedades Raras. E. Mitocondriales-Metabólicas Hereditarias. Departamento de Pediatría, Hospital Universitario 12 de Octubre, Madrid, Spain, emartinh.hdoc@salud.madrid.org.
Insights
This study details managing a child with propionic acidemia and rhabdomyosarcoma, using specialized nutrition and N-carbamylglutamate during chemotherapy to prevent metabolic decompensation.
Area of Science:
- Metabolic disorders
- Pediatric oncology
- Nutritional science
Background:
- Propionic acidemia (PA) is a rare genetic disorder affecting amino acid metabolism.
- Embryonal rhabdomyosarcoma is a rare childhood cancer.
- The co-occurrence of PA and rhabdomyosarcoma is unprecedented.
Purpose of the Study:
- To describe the nutritional and pharmacological management of a pediatric patient with severe propionic acidemia and genitourinary embryonal rhabdomyosarcoma.
- To evaluate the safety and efficacy of chemotherapy in a patient with PA.
- To propose management strategies for similar complex cases.
Main Methods:
- Developed three distinct nutritional treatment plans based on patient's clinical status: stable, chemotherapy, and decompensation.
- Utilized continuous enteral feeding via gastrostomy with a specialized amino acid-based formula.
- Administered pharmacological support including increased carnitine and N-carbamylglutamate during chemotherapy.
Main Results:
- The patient successfully completed 7 months of chemotherapy without metabolic decompensation.
- Good nutritional status was maintained throughout the treatment period.
- No adverse events related to the combined treatment were reported.
Conclusions:
- Continuous enteral feeding with an amino acid-based formula is crucial for managing PA patients undergoing chemotherapy.
- Prophylactic administration of N-carbamylglutamate during chemotherapy is a key measure.
- This integrated approach supports metabolic stability and nutritional status in complex pediatric cases.
Abstract:
We 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.
Related Concept Videos
01:29Chemotherapy-Induced Nausea and Vomiting: Dopamine Receptor Antagonists
Phenothiazines, such as prochlorperazine...
02:49Cancer Therapies
However, cancer treatments can pose several challenges, as therapies used to kill cancer cells are generally also toxic to normal cells. Moreover, cancer cells mutate rapidly and can develop resistance to chemical agents or radiation therapy. Besides, all types of cancer cells may not respond to the same therapy. Some cancer cells respond to one...
01:28Chemotherapy-Induced Nausea and Vomiting: Neurokinin-1 Receptor Antagonists
02:50Combination Therapies and Personalized Medicine
The combination of the drug acetazolamide and sulforaphane is a good example of combination therapy to treat cancer. The cells in the interior of a large tumor often die due to the hypoxic and...
01:26Peptic Ulcer Disease IV: Management
The therapeutic approach involves ensuring adequate rest, implementing drug therapy, promoting smoking cessation, making dietary modifications, and emphasizing long-term follow-up care.
Pharmacological management
The prevailing therapy for peptic ulcers involves a combination of managing the patient's current medication...
01:29Chronic Pancreatitis II: Collaborative Care
Assessment: