Breast milk feeding in infants with inherited metabolic disorders other than phenylketonuria – a 10-year single-center experience

Pichler, Karin; Michel, Miriam; Zlamy, Manuela; Scholl‐Buergi, Sabine; Ralser, Elisabeth; Jörg-Streller, Monika

doi:10.1515/jpm-2016-0205

Cited by 11 publications

(19 citation statements)

References 13 publications

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“…En otro estudio similar se describió la alimentación con leche materna a libre demanda por 3.5 meses; el paciente mostró un adecuado desarrollo neurológico y un peso por arriba del percentil 3. No obstante, la lactancia se suspendió por la insuficiente producción de leche materna 22 . MacDonald et al 10 estudiaron 17 pacientes con EOOJA y lactancia materna a libre demanda en combinación con fórmula metabólica sin aminoácidos de cadena ramificada, pero desafortunadamente no se proporcionaron los datos de seguimiento en su publicación.…”

Section: Lactancia Materna En Pacientes Con Enfermedad De La Orina Co...unclassified

“…Uno de los desafíos al proporcionar leche materna a los pacientes con EIMi es que, al utilizarse a libre demanda, el aporte de proteína o lípidos puede ser mayor que el indicado -o el que se ha descrito en la literatura como el requerimiento-y resultar en una ingestión excesiva que lleve al niño a una descompensación metabólica 9,22,23 . En los casos de EIMi con una deficiencia enzimática muy grave (< 10%), resulta necesario un monitoreo continuo y estrecho.…”

Section: Introductionunclassified

“…La desventaja de este método radica en que, al no existir el estímulo de succión del seno, la producción de leche materna puede disminuir significativamente. Los principales problemas que se han detectado en la lactancia materna de los pacientes con distintos EIMi se resumen en la tabla 1 10,22,24 .…”

Section: Introductionunclassified

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Actualización sobre la lactancia materna en los recién nacidos con errores innatos del metabolismo intermediario

López-Mejía¹,

Guillén-López²,

Vela-Amieva³

et al. 2022

BMHIM

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Los errores innatos del metabolismo intermediario (EIMi) son un grupo de enfermedades monogénicas que afectan alguna vía del metabolismo de las proteínas, los hidratos de carbono o los lípidos; cuando no son tratados a tiempo, se asocian con una elevada morbimortalidad. A la fecha, la piedra angular del tratamiento de los EIMi ha sido la terapia nutricional, cuyo propósito es evitar la acumulación de metabolitos tóxicos al restringir los sustratos que están involucrados en la vía afectada. El manejo nutricional en lactantes incluye una fórmula metabólica sin los nutrimentos involucrados en el EIMi más el aporte de alimentación al seno materno o fórmula infantil. Por el perfil de aminoácidos, la proporción de ácidos grasos esenciales y la protección contra enfermedades, la leche materna resulta un alimento ideal para los pacientes con EIMi. El objetivo de esta revisión de la literatura sobre la lactancia materna en algunos EIMi es servir de guía para el personal de salud involucrado en la atención médica de estos pacientes. La lactancia materna puede ser llevada a cabo de forma exitosa en pacientes con EIMi siempre que exista un seguimiento estrecho y continuo, de preferencia en centros especializados. El profesional de la nutrición y el pediatra deben individualizar las recomendaciones para proporcionar una lactancia a libre demanda en conjunto con una fórmula metabólica o una lactancia materna cuantificada, y con ello lograr una adecuada evolución en estos pacientes.

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Section: Lactancia Materna En Pacientes Con Enfermedad De La Orina Co...unclassified

Section: Introductionunclassified

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Actualización sobre la lactancia materna en los recién nacidos con errores innatos del metabolismo intermediario

López-Mejía¹,

Guillén-López²,

Vela-Amieva³

et al. 2022

BMHIM

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“…Dietary therapy which restricts long‐chain triglyceride (LCT) intake has been shown to decrease the accumulation of potentially toxic acylcarnitine metabolites in LC‐FAOD, which impair cellular function, impede energy production, and alter electrical activity of the heart 1,2,8 . Given the high LCT content of breast milk, breastfeeding has been contraindicated for infants with severe LC‐FAOD, such as CACT deficiency 9,10 . Breast milk offers multiple nutritional and immunological benefits, growth factors, and hormones to support growth and protect against infection 11 .…”

Section: Introductionmentioning

confidence: 99%

“…1,2,8 Given the high LCT content of breast milk, breastfeeding has been contraindicated for infants with severe LC-FAOD, such as CACT deficiency. 9,10 Breast milk offers multiple nutritional and immunological benefits, growth factors, and hormones to support growth and protect against infection. 11 There are well-established short-and long-term medical and neurodevelopmental benefits for infants who receive breast milk, and the American Academy of Pediatrics recommends the provision of breast milk throughout the first year of life.…”

Section: Introductionmentioning

confidence: 99%

Use of skimmed breast milk for an infant with a long‐chain fatty acid oxidation disorder: A novel therapeutic intervention

et al. 2020

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The focus of dietary therapy for long chain fatty acid oxidation disorders (LC‐FAODs) is to minimize fatty acid oxidation by avoiding fasting and providing sufficient calories. Dietary therapy involves restriction of long‐chain triglycerides (LCT), and provision of medium‐chain triglycerides as an alternate energy source. It is well established that the use of breast milk through the first year of a newborn's life has significant health benefits. While very few medical contraindications to breastfeeding exist, feeding an infant with a severe carnitine acylcarnitine translocase (CACT) deficiency typically requires cessation of breastfeeding as approximately 50% of the calories in human milk come from LCT. In this case report, we present the innovative and successful use of skimmed breast milk incorporated into the dietary management of an infant with severe CACT deficiency. Given the poor prognosis for individuals with severe CACT deficiency on standard dietary therapy, the use of skimmed breast milk represents an important measure to try to improve short‐term and long‐term outcomes. Given the many proven benefits of breast milk, this case illustrates that skimmed breast milk can be combined with appropriate fat sources to provide complete nutrition for children with severe CACT deficiency. After over 12 months on this regimen, this patient has experienced normal growth and development and has had no acute decompensations.

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Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision

Boy

Mühlhausen²,

Maier

et al. 2022

J of Inher Metab Disea

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Glutaric aciduria type 1 is a rare inherited neurometabolic disorder of lysine metabolism caused by pathogenic gene variations in GCDH (cytogenic location: 19p13.13), resulting in deficiency of mitochondrial glutaryl-CoA dehydrogenase (GCDH) and, consequently, accumulation of glutaric acid, 3-hydroxyglutaric acid, glutaconic acid and glutarylcarnitine detectable by gas chromatography/mass spectrometry (organic acids) and tandem mass spectrometry (acylcarnitines). Depending on residual GCDH activity, biochemical high and low excreting phenotypes have been defined. Most untreated individuals present with acute onset of striatal damage before age 3 (to 6) years, precipitated by infectious diseases, fever or surgery, resulting in irreversible, mostly dystonic movement disorder with limited life expectancy. In some patients, striatal damage develops insidiously. In recent years, the clinical phenotype has been extended by the finding of extrastriatal abnormalities and cognitive dysfunction, preferably in the high excreter group, as well as chronic kidney failure. Newborn screening is the prerequisite for pre-symptomatic start of metabolic treatment with low lysine diet, carnitine supplementation and For affiliation refer to page 29

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Breast milk feeding in infants with inherited metabolic disorders other than phenylketonuria – a 10-year single-center experience

Abstract: Breast milk feeding with close clinical and biochemical monitoring is feasible in most IMD and should be considered as it offers nutritional and immunological benefits.

Cited by 11 publications

References 13 publications

Actualización sobre la lactancia materna en los recién nacidos con errores innatos del metabolismo intermediario

Actualización sobre la lactancia materna en los recién nacidos con errores innatos del metabolismo intermediario

Use of skimmed breast milk for an infant with a long‐chain fatty acid oxidation disorder: A novel therapeutic intervention

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision

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