Breastfeeding experience in inborn errors of metabolism other than phenylketonuria

Abstract

Breastfeeding has been recommended for the dietary treatment of infants with phenylketonuria, but studies documenting clinical experience in other inborn errors of metabolism are very few. Seven infants diagnosed with methylmalonyl-CoA mutase deficiency (n=2), ornithine carbamoyltransferase deficiency (n=1), propionic acidaemia (n=1), isovaleric acidaemia (n=1), maple syrup urine disease (n=1) and glutaric acidemia type I (n=1) were tried with breastfeeding over two years. After the control of acute metabolic problems, an initial feeding period with a measured volume of expressed breast milk plus a special essential amino acid mixture was continued with breastfeeding on demand and with the addition of a special essential amino acid mixture. Two patients with methylmalonic acidaemia and one patient with glutaric acidaemia type I tolerated breastfeeding on demand very well, with good growth and metabolic control for periods of 18, 8 and 5 months, respectively. In the patient with propionic acidaemia, on-demand breastfeeding continued for 3 months but was terminated after two acute metabolic episodes. The patient with isovaleric acidaemia had insufficiency of breast milk and formula supplementation ended with breast milk cessation. In the patient with severe ornithine carbamoyltransferase deficiency, breastfeeding was stopped owing to poor metabolic control. The patient with maple syrup urine disease also experienced problems, both in metabolic control and in insufficiency of breast milk, resulting in termination of breastfeeding. Breastfeeding of infants with inborn errors of protein catabolism is feasible, but it needs close monitoring with attention to such clinical parameters as growth, development and biochemistry, including amino acids, organic acids and ammonia.

O aleitamento materno no tratamento de crianças com fenilcetonúria

“…[6][7][8][9][13][14][15] Even in the presence of certain risk factors for definitive weaning, which are inevitable in this situation, we consider that the breastfeeding duration of the children with PKU was very good and that it was comparable to the mean durations described in the literature, both for children with PKU and for Brazilian children without PKU. 13,16,17 Demirkol et al, 13 McCabe et al 10 and Motzfeldt et al 6 found mean breastfeeding duration in phenylketonuric patients of 6.1, 8.9 and 7.0 months, respectively.…”

Breastfeeding in the treatment of children with phenylketonuria

“…. Entretanto, para que a utilização do LM tenha êxito no tratamento da PKU, é necessário que os pacientes tenham consultas freqüentes no serviço de referência, possibilitando ajustes dietéticos constantes e controle metabólico adequado, evitando níveis indesejáveis de phe no sangue [6][7][8][9][13][14][15] . Mesmo na presença de alguns fatores de risco, inevitá-veis nesta situação, para o desmame definitivo, consideramos que a duração da amamentação das crianças com PKU foi muito boa e semelhante aos tempos médios descritos na literatura, tanto para crianças com PKU quanto para crianças brasileiras sem PKU 13,16,17 .…”

Nutritional issues in treating phenylketonuria

“…Despite this, breastfeeding is less common in individuals with PKU than in the general population (Agostoni et al 2000a). In view of the major biological and developmental advantages, and when feasible or not contraindicated, human breast milk and breastfeeding should be given greater consideration in PKU and other inborn errors of metabolism than is currently granted (Huner et al 2005;MacDonald et al 2006a). …”