Manejo de las alteraciones del metabolismo de los carbohidratos. Article Errores Innatos del Metabolismo: Aproximación diagnóstica en atención primaria . Varios errores innatos del metabolismo se deben a defectos en los genes de la síntesis de ácidos biliares y se asocian con insuficiencia. En el metabolismo normal, el alimento proporciona el combustible que es procesado dentro de las células, procesamiento de carbohidratos, la rabdomiólisis.

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Patients with IMDs visit PEDs for various reasons that may or may not be related with their underlying disease and that do not always require specific management.

We used the chi-square test for the comparison of nonparametric variables. A total of 24 patients were included in our review Table 1. Published on Jul View 65 Download 0. One third of visitors were admitted, half of them due to metabolic decompensation of the underlying pathology. Inborn errors of metabolism: Vomiting and respiratory symptoms. The second patient had glycogen storage disease type IB and also sought care for febrile disease with vomiting; his parents had not detected low glucose levels at home.

The other admission involved an infant 2 months of age that was transferred to our hospital for a coagulation study.

Estudios bioquimicos de los errores innatos del metabolismo en colombia, durante dos decadas.

The first one involved a newborn 28 days of age with very long-chain acyl-coA dehydrogenase VLCAD deficiency that had sought care for fever and respiratory symptoms accompanied by feeding difficulties.

CiteScore measures average citations received carbohidrtaos document published. Metabolic acidosis is a common finding in ill children, and it is essential that the presence or absence of ketones catbohidratos an anion gap is determined in the course of its investigation. J Inherit Metab Dis, 34pp.


This category included the following presenting complaints: Aten Primaria, 41pp.

En general, en adultos metaboliamo administran de 3 a 5 g diarios, mientras que en nios, la mitad de la dosis de los adultos. The characteristics of patients admitted with metabolic decompensation differed based on their underlying disease Table 5: Thus, the prevention of hypoglycaemia by having frequent meals rich in complex carbohydrates and avoiding long periods of fasting is recommended in the management of both diseases.

The LMD group, which comprised four patients, was ninatos most homogeneous in age mean, 1. Serum anion gap in the differential diagnosis of metabolic acidosis in critically ill newborns.

J Pediatr,pp.

sacharidy – vrozené poruchy metabolismu

We did not find statistically significant differences associating the type of IMD with a greater risk of admission. Slo el ismero levgiro es biolgicamente activo. Patients with IMD came to PES for metabklismo different reasons, which in some cases were the cause or consequence of an acute metabolic decompensation that led to hospitalisation. SRJ is a prestige metric based on the idea that not all citations are the same.

C – Kolhydratomsättningsrubbningar, medfödda

Levocarnitina 30 g Vehculo, c. The authors have no conflicts of interest to declare. IMD type, complaint, duration of symptoms, need for hospitalisation, and presence of metabolic decompensation were recorded. SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field. We conducted a retrospective observational study by reviewing the visits to the PED metaabolismo the Hospital Universitario La Paz made in and by patients diagnosed with IMD that were being followed up in the carbkhidratos Department of Childhood Nutrition and Metabolic Disorders during that period.

Pediatr Emerg Care, 29pp. Debido a su papel en el metabolismo de lpidos, se emplea como coadyuvante en el manejo mdico del control de peso en pacientes con obesidad exgena, debida a la ingesta excesiva y desordenada de alimentos.


Textbook of pediatric emergency medicine, 5th ed. In our analysis of the association between the type of IMD and the risk of admission, the association was statistically significant for the CMD group Table Admissions for metabolic decompensation of patients with IMD seen at the emergency department — The second patient had carnitine transporter deficiency and sought care for isolated vomiting.

Se identifica deficiencia tisular de levocarnitina en pacientes con isquemia aguda o crnica y en personas despus de la actividad fsica.

The mean age of patients in the MD group was 6 years. Hypoglycaemia or ketonaemia reported by patient.

Si se prefiere esta ltima, puede ser aplicada en forma directa o diluida en soluciones intravenosas. Emerg Med Clin N Am, 25pp. En medicina del deporte, la levocarnitina se utiliza como una sustancia ergognica carbonidratos suplemento nutricional en personas sanas que realizan actividades deportivas. None of the patients seeking care for a musculoskeletal, dermatologic or urinary problem required specific interventions due to their underlying metabolic disease.

The mean age of patients in this group was Being diseases with low prevalence, it would be useful to have diagnostic and therapeutic protocols in order to provide optimal care.


Inherited metabolic disorders IMDs are hereditary diseases with a genetic basis. Of the 36 admissions, 16 Subscribe to our Newsletter. Once in the PED, the neurologic findings were normal, and a hepatomegaly of 1—2 cm was detected.

Digestive symptoms comprised the second most frequent group of reasons for PED visits.