Inborn Errors of Intermediary Metabolism in Critically Ill Mexican Newborns

Ibarra-González, Isabel; Fernández-Lainez, Cynthia; Diana, Ida; Belmont-Martínez, Leticia; Guillén-López, Sara; Monroy-Santoyo, Susana; Vela-Amieva, Marcela

doi:10.1177/2326409814529649

Cited by 11 publications

(4 citation statements)

References 31 publications

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“…As in our results, in the studies by Sivaraman et al 1 and Kamate et al, 2 intoxication disorders were also the most common group of IEM present as a metabolic crisis. Additionally, the median length of PICU stay in our study was similar to that described in the literature, 1 2 13 15 but the mortality in our study was lower (20/70 13 –7/11 15 vs. 8/65). Lower mortality is probably due to the higher percentage of diagnosis by newborn screen in our study, when compared with other geographic locations where newborn screen does not exist or includes fewer diseases.…”

Section: Discussionsupporting

confidence: 89%

“…Lower mortality is probably due to the higher percentage of diagnosis by newborn screen in our study, when compared with other geographic locations where newborn screen does not exist or includes fewer diseases. 1,2,15 In our study, an important percentage of pediatric patients was diagnosed with newborn screen. Only one with severe hyperammonemia died without a conclusive diagnosis.…”

Section: Discussionmentioning

confidence: 76%

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Inborn Errors of Metabolism in a Tertiary Pediatric Intensive Care Unit

Lipari

Shchomak

Boto

et al. 2020

J Pediatr Intensive Care

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Few studies exist describing resources and care of pediatric patients with inborn errors of metabolism (IEM) admitted to pediatric intensive care unit (PICU). This study aims to characterize the PICU admissions of these patients to provide better diagnostic and therapeutic care in the future. Retrospective analysis of pediatric patients with IEM admitted to the PICU of a tertiary care center at a metabolic referral university hospital from 2009 to 2019 was included. Clinical information and demographic data were collected from PICU clinical records. During this period, 2% (n = 88 admissions, from 65 children) out of 4,459 PICU admissions had clinical features of IEM. The median age was 3 years (range: 3 days–21 years) and 33 were male. Median age at diagnosis was 3 months; 23/65 patients with intoxication disorders, 21/65 with disorders of energy metabolism, 17/65 with disorders of complex molecules, and 4/65 with other metabolic diseases (congenital lipodystrophy, Menkes' disease, hyperammonemia without a diagnosis). From a total of 88 admissions, 62 were due to metabolic decompensation (infection—38, neonatal period decompensation—14, external accident—5, prolonged fasting—2, and therapeutic noncompliance—3) and 26 elective admissions after a scheduled surgery/elective procedure. The most frequent clinical presentations were respiratory failure (30/88) and neurological deterioration (26/88). Mechanical ventilation was required in 30 patients and parenteral nutrition in 6 patients. Extracorporeal removal therapy was required in 16 pediatric patients (12 with maple syrup urine disease and 4 with hyperammonemia) with a median duration of 19 hours. The median length of PICU stay was 3.6 days (3 hours–35 days). Eight patients died during the studied period (cerebral edema—2, massive hemorrhage—5, and malignant arrhythmia—1). Acute decompensation was the main cause of admission in PICU in these patients. The complexity of these diseases requires specialized human and technical resources, with an important impact on the recovery and survival of these patients.

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Section: Discussionsupporting

confidence: 89%

Section: Discussionmentioning

confidence: 76%

Inborn Errors of Metabolism in a Tertiary Pediatric Intensive Care Unit

Lipari

Shchomak

Boto

et al. 2020

J Pediatr Intensive Care

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“…For the differential diagnosis of MMA, plasma homocysteine was quantified by high-performance liquid chromatography coupled to fluorescence detection; all these techniques were performed according to the methodology reported previously. 10 Patients had nutritional, medical, and biochemical follow-up of 10 months to 10 years, which included anthropometric measurements, hemograms, blood amino acids, acylcarnitines, and ammonia determination.…”

Section: Subjectsmentioning

confidence: 99%

Abnormalities in subsets of B and T cells in Mexican patients with inborn errors of propionate metabolism: observations from a single-center case series

Medina-Torres

Vela-Amieva

Galindo-Campos

et al. 2021

aei

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Background: Propionate inborn errors of metabolism (PIEM), including propionic (PA) and methylmalonic (MMA) acidemias, are inherited metabolic diseases characterized by toxic accumulation of propionic, 3-hydroxypropionic, methylcitric, and methylmalonic organic acids in biological fluids, causing recurrent acute metabolic acidosis events and encephalopathy, which can lead to fatal outcomes if managed inadequately. PIEM patients can develop hematological abnormalities and immunodeficiency, either as part of the initial clinical presentation or as chronic complications. The origin and characteristics of these abnormalities have been studied poorly. Thus, the aim of the present work was to evaluate and describe lymphoid, myeloid, and erythroid cell population profiles in a group of clinically stable PIEM patients. Methods: This was a retrospective study of 11 nonrelated Mexican PIEM patients. Clinical, biochemical, nutritional, hematological, and lymphocyte subsets were analyzed. Results: Despite being considered clinically stable, 91% of patients had hematological or immunological abnormalities. The absolute lymphocyte subset counts were low in all patients but one, with CD4+ T-cell lymphopenia, being the most common one. Furthermore, of the 11 studied subjects, nine presented with a low CD4/CD8 ratio. Among the observed hematological alterations, bicytopenia was the most common (82%) one, followed by anemia (27%). Conclusion: Our results contribute to the landscape of immunological abnormalities observed previously in PIEM patients; these abnormalities can become a life-threatening chronic com-plications because of the increased risk of opportunistic diseases. These findings allow us to propose the inclusion of monitoring immune biomarkers, such as subsets of lymphocytes in the follow up of PIEM patients.

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“…4 En México se han conseguido algunos avances en el conocimiento de la prevalencia de estas enfermedades. 13,14 En los últimos 10 años, en nuestro centro de referencia, que cuenta con una plataforma de espectrometría de masas en tándem, cromatografía de gases acoplada a espectrometría de masas, cromatografía de líquidos de alta resolución y algunas pruebas bioquímicas especializadas, como la cuantificación de ácido orótico en orina, se han diagnosticado cerca de 300 pacientes predominantemente con acidemias orgánicas, aminoacidopatías y defectos del ciclo de la urea; sin embargo, se sabe poco acerca de las causas de descompensación y las hospitalizaciones que estos pacientes tienen, por lo que conocerlas podría ayudar a mejorar la planeación de las necesidades de atención, y aplicar medidas preventivas para evitarlas.…”

unclassified

Untitled

et al. 2020

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Los errores innatos del metabolismo son causantes de una importante morbilidad y mortalidad que contribuyen a la carga hospitalaria pediátrica.OBJETIVO: Analizar la cantidad, tipo, causa, edad a la que ocurrieron y evolución de las hospitalizaciones de los pacientes con errores innatos del metabolismo intermediario, en un centro de tercer nivel de atención pediátrica. MATERIALES Y MÉTODOS:Análisis retrospectivo de hospitalizaciones urgentes y electivas de una serie de casos con errores innatos del metabolismo intermediario. Se recabaron los motivos de ingreso y egreso, datos clínicos, demográficos, tiempo, fecha de hospitalización y servicio que dio la atención. RESULTADOS:En 36 meses ocurrieron 100 hospitalizaciones (88 urgencias y 12 electivas) en 39 pacientes. Los pacientes con descompensaciones metabólicas asociadas con manifestaciones gastrointestinales, infecciosas y respiratorias, y los defectos de propionato fueron los que con más frecuencia se internaron en Urgencias (47.7%); fallecieron 3 pacientes (tirosinemia, acidemia glutárica II y jarabe de maple). La causa principal de internamiento electivo fue para gastrostomía. El 20.6% tuvo tamiz neonatal para errores innatos del metabolismo intermediario. En nuestro centro de referencia, los pacientes con errores innatos del metabolismo intermediario representan 2.6% de las hospitalizaciones de urgencias y 0.42% de las admisiones hospitalarias totales, con mortalidad de 8.8%. Se registraron 2.6 hospitalizaciones por mes, sobre todo por descompensación metabólica.CONCLUSIONES: Los pediatras deben estar capacitados para atender a estos pacientes y las instituciones deben contar con recursos humanos y económicos para ello.

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Inborn Errors of Intermediary Metabolism in Critically Ill Mexican Newborns

Cited by 11 publications

References 31 publications

Inborn Errors of Metabolism in a Tertiary Pediatric Intensive Care Unit

Inborn Errors of Metabolism in a Tertiary Pediatric Intensive Care Unit

Abnormalities in subsets of B and T cells in Mexican patients with inborn errors of propionate metabolism: observations from a single-center case series

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