Improved growth and nutrition status in children with methylmalonic or propionic acidemia fed an elemental medical food

The long-term outcome of patients with methylmalonic aciduria (MMA) is still uncertain due to a high frequency of complications such as chronic renal failure and metabolic stroke. The understanding of this disease is hampered by a huge variation in the management of these patients. The major aim of this study was to evaluate the current practice in different European metabolic centres. A standardized questionnaire was sent to 20 metabolic centres asking for standard procedures for confirmation of diagnosis, testing cobalamin responsiveness, dietary treatment, pharmacotherapy, and biochemical and clinical monitoring. Sixteen of 20 metabolic centres (80%) returned questionnaires on 183 patients: 89 of the patients were classified as mut(0), 36 as mut(-), 13 as cblA, 7 as cblB, and 38 as cblA/B. (1) Confirmation of diagnosis: All centres investigate enzyme activity by propionate fixation in fibroblasts; six centres also perform mutation analysis. (2) Cobalamin response: Ten centres follow standardized protocols showing large variations. A reliable exclusion of nonspecific effects has not yet been achieved by these protocols. (3) Long-term treatment: In cobalamin-responsive patients, most centres use hydroxocobalamin (1-14 mg/week i.m. or 5-20 mg/week orally), while two centres use cyanocobalamin. All cobalamin-nonresponsive patients and most cobalamin-responsive patients are supplemented with L: -carnitine (50-100 mg/kg per day). Fourteen centres use intestinal decontamination by antibiotic therapy. Most centres follow D-A-CH (n = 6) or Dewey (n = 4) recommendations for protein requirements. Fourteen centres regularly use precursor-free amino acid supplements. Standardized monitoring protocols are available in seven centres, again showing high variability.

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“…Plasma amino acid concentrations and nutritional blood markers were within normal limits (Yannicelli et al 2003).…”

Section: Discussionmentioning

confidence: 90%

Diagnostic work‐up and management of patients with isolated methylmalonic acidurias in European metabolic centres

Zwickler

Lindner

Aydin

et al. 2008

J of Inher Metab Disea

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“…En las crisis metabólicas, el aporte energético se suministra mediante carbohidratos y lípidos. La suplencia de carnitina de 100-400 mg/kg/día, restablece el CoA libre en la mitocondria, reduce toxicidad del propionato y promueve excreción urinaria de acil-carnitinas de cadena corta (10,21,22).…”

Section: Discussionunclassified

Acidemia Metilmalónica: presentación de un caso y revisión de la literatura científica

et al. 2014

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ResumenLa acidemia metilmalónica es un desorden causado por anormalidad en la enzima metil malonil CoA mutasa o su cofactor Adenosilcobalamina. Esta holoenzima se encuentra implicada en el catabolismo de varios aminoácidos entre los que se incluyen dos de cadena ramificada (isoleucina y valina). Puede presentarse como una forma severa de inicio neonatal hasta formas con síntomas lentamente progresivos como hipotonía y retardo en el desarrollo. El diagnóstico y tratamiento oportuno, pueden modificar el curso y desenlace de la enfermedad, mejorando la calidad de vida del paciente. Reportamos el caso de un lactante de 3 meses, con pancitopenia, hipotonía, retardo en desarrollo y convulsiones. Se diagnosticó acidemia metilmalónica mediante cromatografía de ácidos orgánicos en orina. El paciente fue tratado con Cianocobalamina, restricción dietaria y levetiracetam con respuesta clínica favorable. Actualmente permanece libre de crisis, los índices de desarrollo son normales y la pancitopenia resolvió. Este caso muestra como el diagnóstico y tratamiento temprano en un paciente con acidemia metilmalónica, aun cuando se origine por déficit de cofactor, puede favorecer el pronóstico neurológico y funcional.Palabras clave: Acidemia metilmalónica, pancitopenia, Cianocobalamina METHYLMALONIC ACIDEMIA: REPORT OF A CASE AND REVIEW OF SCIENTIFIC LITERATURE AbstractMethylmalonic Acidemia is a disorder caused by an abnormality of methylmalonyl-CoA mutase or a deficiency of adenosylcobalamin as cofactor. This holoenzyme is involved in the catabolism of branched chain amino acids. It can present clinically either as a severe neonatal-onset form, or some progressive symptoms as hypotonia and developmental delay. Early diagnosis and treatment can alter the course and outcome. We report the case of a 3-month-old boy, with pancytopenia, hypotonia, developmental delay and seizures. Methylmalonic Acidemia was diagnosed by urinary organic acid chromatography. Patient was treated with Cyanocobalamin, dietary restriction and levetiracetam with favorable response. He is currently seizure free, development indexes are normal and pancytopenia has resolved. This case shows how early diagnosis

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“…Because of that, amino acidbased formulas and additional energy sources are often needed to promote anabolism (Yannicelli 2006). The clinical value of amino acid-based formulas remains controversial and no long term controlled studies have been published; some studies have shown that amino acid supplement does not seem to have an important role in the nutritional and developmental outcome (Touati et al 2006), whereas others have reported improved growth and nutritional status of children using these formulas (Yannicelli et al 2003). Our patient had a very low natural protein tolerance, therefore, these formulas allowed us to meet requirements for normal growth.…”

Section: Discussionmentioning

confidence: 99%

Nutritional and Pharmacological Management during Chemotherapy in a Patient with Propionic Acidaemia and Rhabdomyosarcoma Botryoides

et al. 2012

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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 acidbased formula, and preventive use of N-carbamylglutamate during chemotherapy-days are the principal measures we propose in these situations. Sentence Summary This article describes, for the first time, the management of a patient with propionic acidaemia through 7 months with chemotherapy. Enteral continuous feeding, amino acid-based formula, and preventive use of N-carbamylglutamate during the days of chemotherapy are the principal measures we propose in these situations. AbbreviationsE. Martín-Hernández : P. Quijada-Fraile : L. Oliveros-Leal :

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Improved growth and nutrition status in children with methylmalonic or propionic acidemia fed an elemental medical food

Cited by 54 publications

References 28 publications

Diagnostic work‐up and management of patients with isolated methylmalonic acidurias in European metabolic centres

Diagnostic work‐up and management of patients with isolated methylmalonic acidurias in European metabolic centres

Acidemia Metilmalónica: presentación de un caso y revisión de la literatura científica

Nutritional and Pharmacological Management during Chemotherapy in a Patient with Propionic Acidaemia and Rhabdomyosarcoma Botryoides

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