fisiopatologia trastorns metabòlics endocrinològics @emargaritboada fisiopatologia del metabolisme dels hidrats de carboni molt important el metabolisme dels. malalties genètiques: alteracions hereditàries del metabolisme característiques generals: errors del metabolisme causats per alteracions genètiques. Transtornos hereditarios relacionados con el metabolismo de la galactosa. 1/ 50, RNV. Más común en el Caucaso. Menos común en Asia.

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Errores congénitos del metabolismo

AS Tipo de Material: The method was fisioopatologia in the range of 0. The mean plasma galactose in 15 patients who were homozygous for the most common QR mutation of the GALT gene was 2. In 12 patients with other GALT mutations, it was 2. The mean value in nongalactosemic subjects on lactose-free formula was fisiopatoloiga. The range in 21 normal subjects without diet restriction was 0. Invest Ophthalmol Vis Sci. Erythrocyte galactokinase activity was measured from 95 normal Caucasian subjects and from 39 Caucasian patients who had developed idiopathic bilateral cataracts between ages 20 and The diagnosis of heterozygous galactokinase deficiency was based on the following criteria: Many GALT mutations have been described, with different clinical consequences.

In severe forms, newborns present with a life-threatening, acute toxic syndrome that rapidly regresses under a galactose-restricted diet. However, long-term complications, particularly cognitive and motor abnormalities, as well as hypergonadotrophic hypogonadism in female patients are still unavoidable.

The pathogenesis of galactoseinduced ovarian toxicity remains unclear but probably involves galactose itself and its metabolites such as galactitol and UDP-galactose European Journal of Endocrinology. The infant responded well to a lactose-free diet supplemented with fructose, inulin and corn starch.

The metabolic disorder disappeared within 6 months. The transient course, and results of a molecular analysis of the glucose transporter 2 Glut2 gene seem to rule out Fanconi-Bickel syndrome. Journal of Inherited Metabolic Disease.


Most patients present in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycaemia, renal tubular dysfunction, muscle hypotonia, sepsis and cataract. The gold standard for diagnosis of classical galactosaemia is measurement of GALT activity in erythrocytes. Gas-chromatographic determination of urinary sugars and sugar alcohols demonstrates elevated concentrations of galactose and galactitol Cataract and, rarely, pseudotumor cerebri caused by galactitol accumulation seem to be the only consistently reported abnormalities in this disorder.

We performed a literature search to obtain information on the clinical spectrum of galactokinase deficiency. A total of 25 publications were traced describing 55 galactokinase-deficient patients. Cataract was reported in most patients. However, all symptoms were reported infrequently and a causal relationship with cisiopatologia galactokinase deficiency is unlikely.

Errores congénitos del metabolismo – ppt video online descargar

As cataract and pseudotumor cerebri fisioatologia to be the sole complications of galactokinase deficiency, the outcome for patients with galactokinase deficiency is much better than for patients with fisiopagologia galactosaemia McKusicka more common autosomal recessive disorder of galactose metabolism caused by galactosephosphate uridyltransferase GALT; EC 2. He presented with poor growth and was noted to have polyuria, which was later recognised to be severe watery diarrhoea. We discuss the possible aetiological factors for nephrocalcinosis in this condition.

Although GGM has been reported previously with nephrocalcinosis, this report is the first to show that renal tubular acidosis could explain the coexistence of nephrocalcinosis in patients with glucose galactose malabsorption.

The purpose of the present study was to screen for mutations in the AE1 gene in 2 brothers 10 and 15 years of age with familial distal renal tubular acidosis dRTAnephrocalcinosis, and failure to thrive. AE1 mutations were screened by single-strand conformation polymorphism, cloning, and sequencing.


A complete form of dRTA was confirmed in the 2 affected brothers and an incomplete form in their father. All 3 were heterozygous for a novel bp deletion in exon 20 of the AE1 gene.

fsiopatologia As band 3 deficiency might lead to spherocytic hemolytic anemia or ovalocytosis, erythrocyte abnormalities were also investigated, but no morphologic changes in erythrocyte membrane were found and the osmotic fragility test was normal. We suggest that RTA be considered a diagnostic possibility in all children with failure to thrive and nephrocalcinosis. Bilateral nephrolithiasis was discovered after an episode of hematuria.

Metabolic causes of nephrolithiasis were not found. The most likely explanation for the development of nephrolithiasis is chronic diarrhea leading to dehydration and highly concentrated urine. High fluid intake and rigorous prevention of dehydration is therefore advised for these patients. Furthermore, life-long monitoring of their renal status, including regular ultrasound examinations, is warranted.

The consequent severe diarrhoea and dehydration are usually fatal unless these sugars are eliminated from the diet. Journal of Pediatric Gastroenterology and Nutrition.

Six children are Saudi Arabs and two are of the other Arab nationalities. The mean age of the children at the time of presentation was They visiopatologia first seen for chronic watery diarrhea, present since birth, and failure to thrive. Laboratory investigations, including small-bowel biopsy, histology, and small-bowel enzyme assay, confirmed the diagnosis of glucose-galactose malabsorption.

One child had a renal stone at the first visit, and another was discovered to have one on follow-up. All the children responded clinically to fructose-based formula, and they are thriving at follow-up.