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Biomedical subjects

J Perheentupa

Publications and source records attributed to J Perheentupa.

At least 181 records · Page 10Linked to original sources
PubMed1980

Lysinuric protein intolerance: a two-year trial of dietary supplementation therapy with citrulline and lysine.

In lysinuric protein intolerance, a disease resulting from an autosomal recessive disorder of diamino acid transport, citrulline, unlike arginine and lysine, is absorbed normally from the intestine. In 19 patients with LPI, the status after 2 years of treatment with citrulline or citrulline + lysine was compared with that during the preceding period of treatment with arginine. Administration of citrulline led to improved protein nutrition, as indicated by increases in daily protein intake, blood hemoglobin values, and plasma albumin and valine concentrations. Normal excretion of orotic acid indicated adequate urea cycle function. Seven of the nine stunted children had marked catch-up growth. Of four patients biopsied twice and having initially severe fatty degeneration of the liver, two had improved histology. However, hepato- and splenomegaly, and several biochemical abnormalities in the serum remained unchanged. Giving additional lysine did not enhance the favorable effect, but in some patients provoked abdominal cramps and diarrhea. Citrulline is the most valuable agent for treatment of LPI. Although not curative, it corrects the deficiency of the urea cycle intermediates and protects the patients from hyperammonemia and its consequences.

Adolescent↗
PubMed1980

Changes in peripheral blood cells and serum ferritin in lysinuric protein intolerance.

Twenty-seven patients with lysinuric protein intolerance, an autosomal recessive disorder of diamino acid transport, have been followed at our hospital since 1965. Many of the patients had recurrent mild normochromic anaemia without apparent iron deficiency, and leuko- and/or thrombocytopenia. Serum ferritin concentrations were inappropriately high. Serum ferritin concentration appears to be a valuable index of the control of this disease.

Amino Acid Metabolism, Inborn Errors↗
PubMed1980

Intestinal absorption in lysinuric protein intolerance: impaired for diamino acids, normal for citrulline.

Lysinuric protein intolerance (LPI) is an autosomal recessive defect of diamino acid transport characterised by massive diaminoaciduria, especially lysinuria, with hyperammonaemia after heavy nitrogen intake. The defect has previously been demonstrated in the kidney, and is probably present in the liver cells. To evaluate the effect of the LPI gene on the net intestinal absorption of the diamino acids and citrulline, separate oral loads of each were given to controls, and to subjects heterozygous and homozygous for LPI. In the affected subjects the plasma concentrations of the loaded diamino acids showed lower increments after the loads than in the controls, the difference being marked in the homozygotes and moderate in the heterozygotes. Urinary excretion failed to explain these differences. Thus, the diamino acid transport defect of LPI is also present in the intestine. After citrulline loads, in contrast, plasma citrulline levels rose similarly in controls and homozygotes. Thus, LPI is associated with intact citrulline absorption. The ornithinopenic hyperammonaemia of LPI is probably preventable by supplementing dietary protein with the ornithine precursor citrulline.

Adolescent↗
PubMed1980

Lysine fluxes across the jejunal epithelium in lysinuric protein intolerance.

Lysinuric protein intolerance (LPI) is one of a group of genetic diseases in which intestinal absorption of the diamino acids lysine, arginine, and ornithine is impaired. In LPI, the clinical symptoms are more severe than in the kindred disorders. The mechanism of lysine absorption was, therefore, investigated in vitro on peroral jejunal biopsy specimens in seven patients with LPI and 27 controls. The lysine concentration ratio between cell compartment and medium was significantly higher in the LPI group (mean+/-SEM, 7.17+/-0.60) than in the controls (5.44+/-0.51). This was also true for the intracellular Na concentration (LPI, 73.6+/-10.8 mM; controls 42.3+/-3.7 mM). The rate of unidirectional influx of lysine across the luminal membrane was Na dependent and was the same in the two groups. In the absence of an electrochemical gradient, net transepithelial lysine secretion was observed in LPI. This was entirely the result of a 60% reduction of the unidirectional flux from mucosa to serosa. Calculation of unidirectional fluxes revealed the most striking difference at the basolateral membrane, where the flux from cells to serosa was reduced by 62% and the corresponding permeability coefficient reduced by 71%. A progressive reduction in short-circuit current appeared in the epithelia of all four patients with LPI tested after addition of 3 mM lysine. Thus, LPI appears to be the first disease in which a genetically determined transport defect has been demonstrated at the basolateral membrane.

Amino Acid Metabolism, Inborn Errors↗
PubMed1980

Blood cell polyamines in children with short stature in reference to growth hormone activity.

The molar ratio or two blood polyamines (spermidine to spermine) was investigated in 54 children with shortness of stature. The long-term reproducibility of this ratio was 9.0%. In children with no endocrine disturbances, the mean ratio was 0.97. In children with isolated growth hormone deficiency, it was 0.61, and in those with growth hormone and ACTH deficiency, it was 0.67, both significantly low values. The ratio showed a significant positive correlation with growth hormone response to insulin hypoglycemia (r = 0.58; P less than 0.001) and with the nitrogen retention response to short-term growth hormone therapy (r = 0.45; P less than 0.001). In contrast, no such correlation was present with cortisol response to hypoglycemia.

Adolescent↗
PubMed1979

Growth in Turner's syndrome: spontaneous and fluoxymesterone stimulated.

Spontaneous growth was analysed in a group of 55 girls with Turner's syndrome and various karyotypes. Their variation in height and its dependence on parental height were similar to that of normal girls. At all ages, the 45,X karyotype was associated with slightly greater mean stature than the other karyotypes together. The bone ages lagged progressively behind from 10 years onwards. Twenty-five patients aged between 9.1 and 17.2 years were given fluoxymesterone, 0.06-0.17 mg/kg daily, for at least 1 year. Their height velocities increased significantly. This brought about a clear psychological benefit. Their final heights were predicted before and after therapy, with a new method based on the spontaneous growth and bone maturation of our patients. The response was individually variable but, on average, the patients gained in predicted height from the therapy. This effect was not lost during a posttreatment year. Abnormal lowering of the voice occurred in patients receiving greater than or equal to 0.15 mg/kg fluoxymesterone daily, but never with less than 0.13 mg/kg. No other adverse effects appeared. Thus, fluoxymesterone is useful for promoting growth in girls with Turner's syndrome.

Adolescent↗
PubMed1978

Oral findings in the autoimmune polyendocrinopathy-candidosis syndrome (APECS) and other forms of hypoparathyroidism.

Of twenty-eight patients aged 4 to 28 years with the autoimmune polyendocrinopathy-candidosis syndrome (APECS), twenty-seven had chronic oral candidosis, twenty-five had HPT, twenty-three had enamel hypoplasia, and nineteen had hypoadrenocorticism. Of three patients with other forms of hypoparathyroidism, none had any associated disease or oral abnormality. In nineteen cases candidosis was the first manifestation of APECS. Its occurrence was independent of the other components of the syndrome. The occurrence of enamel hypoplasia also was independent of HPT. Possibly, the enamel organ was affected by an autoimmune episode. No delayed maturation, resorption, or root hypoplasia was observed. Tooth impaction occurred in three patients.

Adolescent↗
PubMed1978

Dental maturity in hypopituitarism, and dental response to substitution treatment.

In 25 patients with hypopituitarism the relation of skeletal and dental maturity and the effects on it of substitution therapy for 2-4 years were analyzed. Dental age was retarded less regularly and to a lesser degree than skeletal age and statural growth. In most patients dental age was within the range of 0-2 s.d. All components of dental development seemed equally retarded. Changes in dental delay during GH treatment were variable, but in most cases parallel to the changes in statural and skeletal delay. When treatment was discontinued the lag in dental age increased, showing a response similar to that of skeletal age.

Adolescent↗
PubMed1978

Fundamental voice frequence during normal and abnormal growth, and after androgen treatment.

A simple treatment was shown to be suitable for clinical measurement of fundamental voice frequency. Basal frequency (SFF) and lowest frequency (LF) were determined in 374 normal subjects aged 6 years to adulthood. SFF fell between ages 8 and 10 years in boys (from 259 to 247 Hz), but not in girls (253 Hz). LF fell between ages 6 and 10 years in boys (from 234 to 203 Hz) and girls (from 230 to 218 Hz), and a sex difference appeared. In puberty, parallel to pubic hair (PH) development, a gradual fall of SFF and LF occurred in both boys (to 100 and 90 Hz, respectively) and girls (to 213 and 180 Hz). As a group, young hypopituitary children and girls with Turner's syndrome had a high SFF, and prepubertal boys with delayed maturation a low SFF. In some children with prenatal growth failure, SFF was abnormally high. The girls with Turner's syndrome exhibited a high, though individually variable, sensitivity of voice to androgen; their voices became lower before the appearance of any other masculinising effects. The instrument is useful for characterisation of growth failure syndromes and stages of puberty. It is particularly recommended for monitoring an undesirable effect on the voice during androgen treatment.

Adolescent↗
PubMed1978

Growth failure from symptomless celiac disease. A study of 14 patients.

In 14 children and adolescents, abnormally short stature was shown to be due to celiac disease (CD) though the patients had no current gastrointestinal symptoms. Growth failure had appeared in the first years of life, and was associated with a marked lag in bone age. Subnormal growth hormone (GH) responses were demonstrated in 4 patients, and subnormal ACTH responses in 2. In 1 patient permanent isolated GH deficiency coincided with CD. A jejunal biopsy should form part of the routine diagnostic evaluation for abnormally short stature, except in patients who have had normal growth during the first year of life.

Adolescent↗
PubMed1978

Craniofacial and dental characteristics of cartilage-hair hypoplasia.

The cranio-facial and dental features were studied by means of roentgencephalometry and anthropometry in 24 patients with cartilage-hair-hypoplasia. Data pertaining to the cranial base were considered indicative of subnormal growth in some of the cranial synchondroses. The width of the neurocranium was slightly below the values of the controls, whereas neurocranial length and circumference appeared unaffected. Facial height was larger than in the controls and facial index values were high. The chin was receding, but the other values of facial depth were relatively large. No abnormalities were observed in tooth morphology, dental age, or dental occlusion. The neurocranial morphology in CHH and achondroplasia show some similarities; the skull base, however, is clearly less bent in the CHH-syndrome. This, together with the virtually normal face and dentition in CHH-patients, is, perhaps, of differential diagnostic value.

Adolescent↗