J. K. Visakorpi

Lysinuric protein intolerance

Lysinuric protein intolerance is an autosomal recessive disorder which first appears as failure to thrive, vomiting and diarrhea in the infant after weaning from mothers milk. Later it manifests as failure to grow, muscular weakness and osteopenia associated with aversion to animal protein. Some patients become mentally retarded and have periods of stupor. The disease is characterized by marked lysinuria, and hyperammonemia after protein intake. According to accumulating evidence, the basic defect is deficient transport of diamino acids in the intestine, liver and kidney tubuli. Effective treatment is provided by supplementing protein food with extra arginine.

Intolerance to Cow's Milk and Wheat Gluten in the Primary Malabsorption Syndrome in Infancy

Since 1950, when Dicke et al. [5] reported their observation on the harmful effect of gluten on patients with coeliac disease, the main interest in the study of this disease has been focused on the pathogenetic role of gluten. Persistent sensitivity to gluten has even been taken as a diagnostic criterion in coeliac disease. However, absorption defects and other coeliac symptoms have been described in some patients in whom the disease was undeniably related to cow’s milk [4, 121. Especially the report of Fallstrom et al. [6] gives interesting new information, suggesting that cow’s milk intolerance may pave the way for a later developing sensitivity to gluten, as proposed earlier by Heiner et al. P I . The malabsorption syndrome in childhood has been under investigation in our hospital during the past few years. The occurrence of the various types of malabsorption syndrome and significance of absorption tests in the diagnosis of these diseases have been presented in another paper [15]. Infants with intolerance to cow’s milk and/or gluten constituted the largest and therapeutically most impor-

Familial protein intolerance with deficient transport of basic amino acids. An analysis of 10 patients.

Familial protein intolerance with deficient transport of basic amino acids (PI), a syndrome of aversion to protein-rich nutrients with hyperammonemia and deficient rise in plasma urea levels following protein intake, failure of growth, hepatomegaly, characteristic amino aciduria, and periods of diarrhea and vomiting in infancy, was described by us in three children in 1965 [22]. Since then, we have seen seven other Finnish and Lapp children with this syndrome. Here we define the clinical features of this disorder, and present further investigations on its biochemistry and a preliminary evaluation of its treatment with arginine.

RESPONSE OF THE JEJUNAL MUCOSA TO COW'S MILK IN THE MALABSORPTION SYNDROME WITH COW'S MILK INTOLERANCE A Light‐ and Electron‐Microscopic Study

Three infants, in whom the malabsorption syndrome, small intestinal. mucosal damage and clinical cows milk intolerance were found, were challenged with cows milk after initial treatment with breast milk. The small intestinal mucosa was investigated with light and electron microscopy both before and after provocation.

INTESTINAL MALABSORPTION: A CLINICAL STUDY OF 22 CHILDREN OVER 2 YEARS OF AGE

A classic clinical picture and steatorrhoea with gluten intolerance are the criteria usually applied in the diagnosis of coeliac disease. Hence, it is difficult to detect the existence of atypical symptomatology in the disease. Nevertheless, more or less atypical forms have been described by many authors, expecially in older children (2, 3, 8). When the finding of villous atrophy of the intestinal mucosa is taken as the diagnostic criterion of coeliac disease, it is possible to evaluate the clinical manifestations in coeliac disease and even detect other conditions associated with intestinal mucosal villous atrophy. This report presents the clinical symptomatology and findings in respect of 22 children over 2 years of age, in whom significant villous atrophy was found. The authors believe that these patients are all suffering from coeliac disease, although this name has not been applied because the diagnosis has not been properly verified in each case. We have previously presented a series of infants with similar findings (11).

Disaccharidases and histology of duodenal mucosa in congenital lactose malabsorption.

A study has been made of the disaccharidase activities and histology of duodenal mucosa in two infants with typical congenital lactose malabsorption. The mucosal samples were taken by means of peroral intestinal biopsy. At the time Of biopsy, the patients were 2½ and 4½ months old and they had been on lactose free diet 39 days and 3 ½ months respectively.

Malabsorption syndrome in childhood. The occurrence of absorption defects and their clinical significance.

Defective intest,inal absorption is one of the most characteristic findings in coeliac disease. Beside the determination of faecal fat, many new tests have been developed for the assessment of intestinal absorption. Among these, the D-xylose excretion test and the determination of urinary FICLU have come into wide clinical use. Although these tests usually enable a clear differentiation to be made between normals and patients with coeliac disease, abnormal results may be obtained in many other diseases and clinical states, which can all be listed under the title malabsorption syndrome. Furthermore, these indirect tests may give “false positive” results for various reasons [2, 31. Therefore, evaluation of the significance of the results of these absorption tests is difficult and has rarely been carried out in a series of patients suffering from different forms of the malabsorption syndrome. In this study absorption defects have been searched for by means of faecal fat determination, the D-xylose excretion test and the FICLU test in children with symptoms suggestive of the malabsorption

Lysinuric protein intolerance, an autosomal recessive disease. A genetic study of 10 Finnish families.

Lysinuric protein intolerance (LPI) is characterized by failure to thrive, diarrhea and vomiting associated with protein intake, aversion to protein‐rich food, growth retardation, hepatomegaly, hyperammonemia, and deficient urea formation after an amino nitrogen load, and increased urinary excretion of basic amino acids, especially lysine. LPI has been diagnosed in 16 patients of 10 families in Finland and in one Finnish immigrant in Sweden. In this study data were evaluated to test the autosomal recessive transmission of LPI.

FREQUENCY AND NATURE OF RELAPSES IN CHILDREN SUFFERING FROM THE MALABSORPTION SYNDROME WITH GLUTEN INTOLERANCE

According to the literature (2), gluten intolerance appears to exist in several different forms. A typical feature of gluten intolerance in coeliac disease is said to be the disappearance of symptoms and mucosal abnormalities when gluten is avoided and their recurrence when it is ingested again (1). However, it is well known that clinical symptoms of the disease do not always reappear (7), and this has led to the concept of acquired or transient gluten intolerance (2). Investigations based on intestinal biopsy, however, indicate that these patients may undergo relapse without any clinical manifestations (8). The clinical symptornatology of gluten intolerance has earlier been described by one of us (10) in a group of infants suffering from the malabsorption syndrome. Because the duration of these clinical symptoms was found to be relatively short, it was assumed that most of these patients had transient coeliac disease, and they were therefore placed on a glutencontaining diet when they were found to tolerate it clinically. The purpose of the present follow-up study, including intestinal biopsy, was to throw further

Hyperprolinemia without Renal Disease

Hyperprolinemia is a rare, inborn defect of metabolism. Efron (1) has demonstrated that apparently two types of this disease exist: type I is a defect of proline oxidase enzyme, and type I1 a defect of PC-dehydrogenase. A description is given here of a family with four living children, of which two were suffering from hyperprolinemia type I1 (Fig. 1). The index case, a boy, was admitted at the age of 6 months; he had had prolonged epileptic seizures. His birth and early development were normal. On admission, the patient was flabby, somnolent and hyperthermic. On the second day, an erythematous rash appeared. The seizures subsided within three days under antiepileptic treatment. Few pathological findings were made on laboratory examination, although the EEG was extremely abnormal. Strong prolin-hydroxyprolinand glycinuria were found in biochemical studies. The serum proline concentration was