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[Partial ornithine carbamyl transferase deficiency].

The author reports the case of a 8-month-old girl with a partial ornithine carbamyl transferase deficiency revealed by an acute hepatic failure. The first diagnosis was hereditary fructose intolerance, corrected after the finding of an hyperoroticuria. Despite the treatment based on hypoprotidic diet, sodium benzoate and arginine, the child presented several hyperammoniemic comas. Then, dermatological manifestations, presumably due to protein denutrition, were successfully treated with amino acids keto-analogs.

Acute Disease↗

[Neonatal cholestasis : clinical and diagnostic setting].

A retrospective study of 112 infants admitted at Pediatric Clinic of Catania from 1970 to 1985 with diagnosis of "Cholestatic jaundice" shows two prevalent pathologies: neonatal hepatitis and biliary atresia. Some other disease like cystic fibrosis. Hereditary fructose intolerance, Galactosaemia, Paucity of bile duct were found rarely. Some laboratory parameters (Serum direct bilirubin, Alkaline Phosphatase, Alkaline Phosphatase/Transaminase (GOT) show a characteristic pattern. Therefore the analysis of these data could help us to make a probability diagnosis and anticipate the liver biopsy that remain the most sensitive diagnostic instrument. In fact it is known that the earlier diagnosis is very important for the prognosis of these infants.

Biliary Atresia↗

The cariogenic potential of foods--a critical review of current methods.

Current methods used in examining the cariogenic potential of foods are plaque pH measurements, measurements of adhesiveness of foods, experimental caries models and animal tests. pH measurements can be used for separating the non-acidogenic foods from the acidogenic ones but they are not suitable for separating foods with different levels of caries inducing potential. This is illustrated by the fact that virtually all foods which contain carbohydrates cause the pH of human plaque to fall below 5.5. Cooked rice and beans also give such a pH drop but these foods have a very low caries-inducing potential, as shown in studies of persons with hereditary fructose intolerance. Furthermore, experimentation has shown that acid formation and enamel dissolution are not directly correlated. Animal models exist in which various test foods can be examined under identical conditions. By using the same microbial challenge and a reference food, for example sucrose, the relative cariogenic potential of a test food can be calculated. One limitation with these animal models is that the foods have to be given in powdered form and not in the physical form in which they are consumed by humans. The main objection against most of the current methods is that they reflect important factors in our concept of the pathogenesis of dental caries only to a limited extent. For example, only the animal tests can be used to illustrate the extent to which foods support the colonization of S. mutans on teeth. The qualitative composition of the plaque is practically never considered. A series of tests can, however, be combined to give more relevant information about the caries-inducing potential of foods.(ABSTRACT TRUNCATED AT 250 WORDS)

Acids↗

[The incidence of caries in juvenile diabetics (author's transl)].

The present state of knowledge regarding the aetiology of caries implicates the interrelationship between low-molecular carbohydrates and the bacterial flora as an essential factor in the potential development of caries. Persons with hereditary fructose intolerance and patients with diabetes mellitus are of special interest in studying these interrelations. The DMF/S index was calculated and a regression analysis carried out in 101 diabetic children and juveniles aged 4 to 18. The incidence of dentine caries was significantly lower in children with onset of diabetes preceding the appearance of the second dentition than in children with manifest diabetes of up to 3 years' duration. The DMF/S index was high in individual patients in spite of the prescribed dietary treatment.

Adolescent↗

Acute and chronic diarrhea. How to keep laboratory testing to a minimum.

Diagnosing a cause of diarrhea is a challenging undertaking but can be accomplished if a systematic approach is used for evaluation. Pathophysiologic mechanisms of acute diarrhea (eg, Giardia lamblia infection, antibiotic use) are different from those of chronic diarrhea (eg, secretory dysfunction from thyrotoxicosis, lactose or fructose intolerance), so adequate history taking and physical examination are essential in narrowing the diagnosis. Laboratory investigation can then be directed using the information obtained, and the cause of the diarrhea can be established without subjecting the patient to extensive and expensive testing. Undoubtedly, some functional entities that contribute to diarrhea await discovery.

Acute Disease↗

[Liver cirrhosis in metabolic disorders].

The most early cirrhosis is observed in newborns with neonatal hemachromatosis. Early cirrhosis occurs in hereditary tyrosinemia type I, peroxisomal diseases and glycogen storage disease (type IV). In Wilson's disease, a case complicated with cirrhosis was reported in a 4-year-old patient. Slowly progressive cirrhosis is seen in patients with familial progressive intrahepatic cholestasis. Focal biliary cirrhosis is found in cystic fibrosis of the pancreas. Moreover, many other metabolic disorders, except for urea cycle disorders, are occasionally or rarely complicated with cirrhosis. Early diagnosis and proper management could prevent the development of cirrhosis in patients with galactosemia, hereditary fructose intolerance, etc. The occurrence of hepatoma must be monitored in these patients. Liver transplantation is indicated in a part of the patients with cirrhosis.

Carcinoma, Hepatocellular↗

[Fructosemia].

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Child↗

Diarrhoea in kwashiorkor.

Diarrhoea was a common problem in the kwashiorkor seen in Kampala, contributing to the mortality and delay in recovery. Enteric infection was found in only a few children (8%), but when present it caused particularly severe diarrhoea and was frequently complicated by septicaemia.Sugar intolerance often occurred to lactose and other sugars, both monosaccharide and disaccharide. The children were most commonly intolerant of lactose, and some of these may have had a hereditary lactase deficiency.Antibiotics are rarely indicated for the treatment of diarrhoea in kwashiorkor in Kampala. If reducing substances are found in the stool of a child on a milk diet, a diet based on sucrose is substituted, and if intolerance persists a fructose diet is given. A few children are intolerant of all sugars, including fructose, and for these the prognosis is grave.

Carbohydrate Metabolism, Inborn Errors↗