ERRORES INNATOS DEL METABOLISMO DE LOS CARBOHIDRATOS PDF

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.

Author: Shar Mezil
Country: Iran
Language: English (Spanish)
Genre: Love
Published (Last): 21 October 2007
Pages: 98
PDF File Size: 14.53 Mb
ePub File Size: 2.11 Mb
ISBN: 766-7-58826-422-8
Downloads: 16665
Price: Free* [*Free Regsitration Required]
Uploader: Vudodal

The Spanish Association of Pediatrics has as one of its main objectives the dissemination of rigorous and updated scientific information on the different areas of pediatrics. Annals of Pediatrics is the Body of Scientific Expression of the Association and mdtabolismo the vehicle through which members communicate.

The magazine, metabolimo to the Spanish-speaking pediatric, indexed in major international databases: The Metagolismo Factor measures the average number of citations received in a particular year by papers published in the journal during xarbohidratos two receding years. CiteScore measures average citations received per document published.

SRJ is a prestige metric based on the idea that not all citations are the same. SJR uses a similar algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal’s impact. SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field. Advances in the early diagnosis and treatment have led to improved survival, and a better quality of life for patients with inherited metabolic disorders IMD.

The purpose of this study was to review the characteristics of visitors to the PES of these patients in a tertiary hospital. IMD type, complaint, duration of symptoms, need for hospitalisation, and presence of metabolic decompensation were recorded. A total of visits were analysed, with the most frequent reason being for consultation of respiratory processes When the consultation was xe vomiting, patients with protein-related disorders were those who delayed less in going to PES.

One third metabolusmo visitors were admitted, half of them due to metabolic decompensation of the underlying pathology. Patients with IMD came to PES for many different reasons, which in some cases were carbohiddatos cause or consequence of an acute metabolic decompensation that led to hospitalisation.

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.

Their individual prevalence is low, but combined they occur in approximately 1 in live births. At present, we have tools that increasingly allow for early diagnosis and initiation of treatments that improve quality of life and clinical outcomes in these patients.

As a consequence, there is an increasing number of visits to paediatrics and paediatric emergency departments by children mdtabolismo with IMDs seeking care for various reasons that may or may not be related to their underlying disease.

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

We conducted a retrospective observational study by reviewing the visits to the PED of the Hospital Universitario La Paz made in and by patients diagnosed with IMD that were being followed up in the hospital’s Department of Childhood Nutrition and Metabolic Disorders during that period.

Our study did not include patients with genetic dyslipidaemias.

We classified these patients in four groups according to their underlying disease: Carbohydrate metabolism disorders CMDs: Lipid metabolism disorders LMDs: In addition to these patients, the caseload of the department included five patients with disorders of complex molecule metabolism, specifically with congenital disorders of glycosylation and lysosomal storage disease.

Of these patients, only one errorea a congenital disorder of glycosylation type IA visited the PED during the period under study. For each patient, we recorded the number of visits to the PED during the period under study, the reason for the visit, the duration of symptoms, admission to the hospital from the PED and the presence of associated metabolic decompensation.

We performed the statistical analysis with the StatCalc 5. We used the chi-square test for carrbohidratos comparison of nonparametric variables. A total of 24 patients were included in our review Table 1. The mean age of patients in this group was Patients with IMDs that received care at the emergency department — The LMD group, which comprised four patients, was the most homogeneous in age mean, 1.

  LAS METAMORFOSIS DE LUCIO APULEYO PDF

The group of CMD included 3 patients: The patient that made the most visits to the PED 15 belonged to the MD group, a boy with Pearson syndrome that made the first visit at 8 months and the last one at 2 years and 8 innatox of age. The mean age of patients in the MD group was 6 years. However, when we analysed the number of visits per patient vpp we found that the highest mean number of visits corresponded to patients in the MD group 6.

sacharidy – vrozené poruchy metabolismu

The visit rates were similar when we considered all the patients that were being followed up in the department during the period under varbohidratos MD, 6.

The most common reasons for PED visits involved respiratory conditions Most of these patients did not require specific therapeutic interventions for their underlying disease and were managed similarly to patients without IMDs.

This category included the following presenting complaints: Fever, isolated or with vomiting, without diarrhoea.

Digestive symptoms comprised the second most frequent group of reasons for PED visits. Among them, isolated vomiting was the leading complaint None of the patients seeking care for a musculoskeletal, dermatologic or urinary problem required specific interventions due to their underlying metabolic disease. Hospital admission resulted from 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 Risk of admission by type of IMD.

Of the 36 admissions, 16 The mean time elapsed from the onset of symptoms to the PED visit in patients admitted for metabolic decompensation was Total number of admissions due to metabolic decompensation by initial reason for emergency department visit.

The characteristics of patients admitted with metabolic decompensation differed based on their underlying disease Table 5: The first one was a patient with glycogen storage disease type IA that sought care for fever of recent onset accompanied by respiratory symptoms and vomiting, in the context of poor glycaemic control in the home in the days preceding the visit.

The emergency department findings included normal glucose and metabolic acidosis. 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.

Fluid therapy was initiated, and poor oral tolerance prompted admission of the patient.

Errores congénitos del metabolismo – ppt video online descargar

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.

Arterial cargohidratos gas and lactate measurements were normal. The second patient had carnitine transporter deficiency and sought care for isolated vomiting. The PED findings included hyperlactacidaemia, acidosis, and normal glucose.

The other admission involved an infant 2 months of age that was transferred to our hospital for a coagulation study. The original reason for care seeking had been an episode of potential choking associated with wrrores absence seizure and hypotonia, which prompted the initial laboratory tests.

Once in the PED, the neurologic findings were normal, and a hepatomegaly of 1—2 cm was detected. A second round of laboratory tests confirmed the presence of clotting abnormalities and the patient was admitted for a coagulation study.

The investigation carbohidraots the diagnosis of tyrosinaemia type In the second admission, the decompensation was caused by metabolic acidosis in the context of a respiratory infection with associated vomiting. Admissions for metabolic decompensation of patients with IMD seen at the emergency department — We did not find statistically significant differences associating the type of IMD with a greater risk of admission.

While the association was statistically significant for the CMD group, this result was of little clinical relevance because the odds ratio for an observational study was very small, and the confidence interval was virtually nonexistent. Patients with IMDs tend to visit the PED for the slightest acute alterations in general health status ols to the possibility of them leading to metabolic decompensation.

  I NOVE SCALINI PDF

Hyperammonaemia may be accompanied by respiratory alkalosis due to the stimulating effect of ammonia on the innattos respiratory centres, and thus loz presence of tachypnoea in a patient with IMD should carbohidrwtos be underestimated. Hypoglycaemia can be found in different IMDs and delays in emergency treatment can result in permanent brain damage.

In this disease, defects in the glucosephosphatase complex result in the inability to produce glucose from glycogenolysis and gluconeogenesis, which activates lipid catabolism pathways. Biochemical findings include metabolic acidosis, hyperlactacidaemia and dyslipidaemia. The remaining episodes of hypoglycaemia were observed in one patient with Pearson syndrome and one patient with VLCAD deficiency.

Síntesis de Ácido Biliar, el Metabolismo y las Funciones Biológicas

Pearson syndrome is a rare multiorgan mitochondrial cytopathy in which hypoglycaemic events are associated with liver involvement. In VLCAD carbohidartos, episodes of hypoketotic hypoglycaemia 22 may be triggered by fasting, prolonged physical exertion or intercurrent disease. Patients with disorders of carnitine metabolism are injatos at risk of developing hypoketotic hypoglycaemia secondary to defects in the beta-oxidation of long-chain fatty acids.

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.

Metabolic acidosis is a common finding in ill children, and it is essential that the presence or absence of ketones and an anion gap is determined in the course of its investigation. Metabolic acidosis with a normal anion gap should be interpreted as an indicator of bicarbonate loss through the kidney or the gastrointestinal tract. During the period under study, no patient was newly diagnosed with IMD during their first visit to our PED, except for the onset of tyrosinaemia in one patient that was transferred from another facility.

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. In patients with a known IMD, it is particularly important to differentiate between acute decompensation and intercurrent diseases that carry a risk of decompensation, as the symptoms often overlap and are nonspecific. It is very rare for IMDs to be first identified at a PED; nevertheless, protocols must be in place for the management of patients that present with signs or symptoms suggestive of IMD.

Inherited metabolic disorders are complex diseases, and their management requires knowledge of the most common metabolic complications that can be severe or life-threatening. The authors have no conflicts of interest to declare. Please cite this article as: Previous article Next article. This item has received. Show more Show less. Introduction Advances in the early diagnosis and treatment have led to improved survival, and a better quality of life for patients with inherited metabolic disorders IMD.

The purpose of this study was to review the characteristics of visitors to the PES of these patients in a tertiary hospital. IMD type, complaint, duration of symptoms, need for hospitalisation, and presence of metabolic decompensation were recorded. Results A total of visits were analysed, with the most frequent reason being for consultation of respiratory processes One third of visitors were admitted, half of them due to metabolic decompensation of the underlying pathology.

Conclusions Patients with IMD came to PES for many different reasons, which in some cases were the cause or consequence of an acute metabolic decompensation that led to hospitalisation. Being diseases with low prevalence, it would be useful to have diagnostic and therapeutic protocols in order to provide optimal care.

Back to top