Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011849 (diabetes)
 277,896 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Urine specimens from 135 295 infants have been collected on filter papers and tested for 7 abnormal urinary constituents using spot tests and paper chromatography. The method has detected 5 infants with phenylketonuria, 4 with histidinaemia, 5 with cystinuria, 5 with diabetes mellitus, and one with alcaptonuria. Transient abnormalities such as tyrosyluria, generalized aminoaciduria, cystinuria, and glycosuria have been noted. 2 phenylketonuric infants failed to excrete a detectable quantity of o-hydroxyphenlacetic acid at the time of testing. The findings show that the detection of this compound in urine is an unreliable method of screening for phenylketonuria.
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PMID:Screening for inherited metabolic disease in Wales using urine-impregnated filter paper. 114 66

The obstetrics histories of all the pregnances were studied, including the deliveries and abortions, the perinatal mortality of fetuses and the frequency of congenital malformations among newborns in 239 repeatedly pregnant women heterozygous for the gene of phenylketonuria (PKU), 40 women with the latent form of diabetes mellitus (LDM) and 96 women heterozygous for Dushenne's myopathy (MD). It was established that the frequency of women suffering from spontaneous abortions (SA) was increased as well as the SA frequency among all the pregnancies with natural results in heterozygotes for the PKU gene; it was also established that the frequency of stillborns and of the early mortality of newborns was considerably higher among women with LDM. In both these groups the frequency of congenital malformations among the newborns was also relatively high. In women heterozygous for the PKU gene the pathogenic effect was realized only during the first three months of pregnancy, while in women with LDM it was realized through all the period of pregnancy. The heterozygosity of women for MD proved not to be pathogenic for the progeny. Possible mechanisms realizing the effect of heterozygosity of women for the abovementioned recessive genes during pregnancy are discussed.
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PMID:[Effect of maternal genetic heterozygosity]. 124 Aug 17

We describe agoraphobia as a complication of phenylketonuria (PKU) in young adults. The five patients have classic PKU and received phenylalanine-restricted diet only in childhood. Only one has normal intelligence. All but one were also depressed. All were anxious. Three of the five had initiated the phenylalanine-restricted diet after 3 months of age. Two returned to the phenylalanine-restricted diet with dramatic reduction of symptoms. The frequency of manifestations of agoraphobia was also examined in 50 young women with PKU enrolled in a longitudinal study of psychosocial factors in maternal PKU, 47 of their acquaintances and 49 women with diabetes. All were administered a test of agoraphobic-avoidant behaviour. The women with PKU appeared to be more prone to social withdrawal and fear of leaving home. Twenty per cent were within the agoraphobia range of the Mobility Inventory. Those still on diet and those with non-PKU hyperphenylalaninaemia reported less avoidant behaviour than those who had terminated the diet in childhood. These results suggest that young adults with PKU are at risk for agoraphobia but that return to the phenylalanine-restricted diet may be an effective treatment.
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PMID:Agoraphobia in phenylketonuria. 177 21

Diabetes eye complications, and particularly diabetic retinopathy, are the major cause of blindness in the working age groups of industrialised countries. Laser photocoagulation has been proven to reduce blindness due to retinopathy by at least 60% but even more patients would benefit if treatment were delivered at an early enough stage. High risk retinopathy, though, does not cause visual symptoms and when the latter occur it is often too late to reverse them. Hence, a screening programme for diabetic retinopathy should aim at detecting patients at risk when they can still be effectively treated. This can be obtained by regularly checking the patients' eyes. Its target, as defined by the joint World Health Organisation/International Diabetes Federation Saint Vincent Declaration Working Group, is to reduce diabetes-related blindness by one third or more in the next 5 years. The number of persons to be screened is high, 30,000/million total population/year, but available data indicate that this is feasible and that the initial investments in professional and material resources are more than justified by the reduction of preventable blindness and of the financial burdens that go with it. Indeed, prevention of the major cause of blindness in the working age should rate the same priority as other widely deployed programmes, such as those to screen for cancer, neonatal hypothyroidism and phenylketonuria. The concerted action of government health departments, patients' and professional associations will be vital for the successful implementation of this programme. The texts of this document (a protocol for the screening of diabetic retinopathy and cataract), Appendix 1 (data collection card) and Appendix 2 (informative leaflet for the patients) were approved by 57 specialists, representing 30 diabetic and ophthalmic societies from 21 European countries, and endorsed for translation into all European languages and distribution at the appropriate levels.
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PMID:Protocols for screening and treatment of diabetic retinopathy in Europe. 182 Nov 98

Diabetic eye complications, and particularly diabetic retinopathy, are the major cause of blindness in the working age groups of industrialized countries. Laser photocoagulation has been proven to reduce blindness due to retinopathy by at least 60% but even more patients would benefit if treatment were delivered at an early enough stage. High-risk retinopathy, though, may not cause visual symptoms, and when the latter occur it is often too late to reverse them. Hence, a screening programme for diabetic retinopathy should aim at detecting patients at risk when they can still be effectively treated. This can be achieved by regularly checking the patients' eyes. The screening programme's target, as defined by the joint World Health Organization/International Diabetes Federation Saint Vincent Declaration Working Group, is to reduce diabetes-related blindness by one-third or more in the next 5 years. The number of individuals to be screened is high, 30,000 per million total population per year, but available data indicate that this is feasible and that the initial investments in professional and material resources are more than justified by the reduction of preventable blindness and of the financial burdens that go with it. Indeed, prevention of the major cause of blindness in the working age group should rate the same priority as other widely deployed programmes, such as those to screen for cancer, neonatal hypothyroidism, and phenylketonuria. The concerted action of government health departments, patients' and professional associations will be vital for the successful implementation of this programme.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:A protocol for screening for diabetic retinopathy in Europe. Retinopathy Working Party. 182 43

Acetylation capacity was examined in three groups of Czech children by measuring the plasma and urine concentrations of sulphamethazine and its acetylated metabolite 6 h after an oral test dose of 20 mg/kg sulphamethazine. Amongst 82 healthy children aged 4-15 y there were 32 (39%) fast acetylators; there was no significant difference between the number of boys and girls, or between children over or less than 6 years of age. In 41 patients aged 3-15 y with phenylketonuria, the acetylation indices showed a significantly higher proportion of fast acetylators - 24 (58.5%) using plasma measurements and 29 (70.7%) using urine data. In them the ratio between slow and fast acetylators was inverted compared to normal children. The preponderance of fast acetylators was greater in boys than in girls and in children over 6 years of age. An increased acetylation capacity in patients with phenylketonuria was apparent even in individuals classified as slow acetylators, because in them the plasma concentration of the acetylated metabolite was higher than in control acetylators. Amongst 48 young patients (5-15 y) with insulin-dependent diabetes there were 19 (39.6%) fast and 29 (60.4%) slow acetylators, which corresponded well to the phenotype distribution in control children. This did not support the suggested association between the fast acetylator phenotype and Type I diabetes.
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PMID:N-acetylation in healthy and diseased children. 227 87

Five patients with childhood scleroderma, were studied from a total group of 50 cases with the disease, 39 of them with diffuse systemic sclerosis and 11 with the CREST syndrome. The average age for these five patients when the disease onset was 13 (the age ranged from 5.5 to 16 years) with an average follow-up of 3.6 years (ranging from 1 to 6.5 years). Of the five, four girls were classified as having diffuse systemic sclerosis and the remaining boy, as suffering from the CREST syndrome. We found no family history or personal and occupational antecendents related with the appearance of the illness. Also excluded were conditions associated with changes similar to scleroderma as are seen in cases of diabetes mellitus, phenylketonuria, toxic oil syndrome, or graft-host rejection reactions. The clinical manifestations seen at the start of the disease included the Raynaud phenomenon, subcutaneous edema and muscular-skeletal abnormalities as arthralgia and myalgia with objective data of inflammatory myopathy. Proximal scleroderma was seen in all five patients; three of them, in addition, developed rapidly progressive cutaneous changes, causing the loss of elasticity and cutaneous hardening of the face during the first year of the disease. In all of the cases, the skin biopsy showed histopathological changes compatible with the diagnosis already given. The most important changes seen in the organs of these children were oesophageal dysfunction and fibrosis of the lung. The X-rays of three of the patients showed them to suffer from intestinal malfunction. We found no kidney, liver or nervous system disorders.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Generalized sclerosis (scleroderma) in children]. 269 12

Evaluation of published human and animal teratology data revealed associations between maternal toxicity and congenital malformations and embryofetal death. This has been reported elsewhere in detail and is herein summarized. Regarding human data, intrauterine deaths were observed to occur in association with 1) maternal homeostatic changes due to phenylketonuria and diabetes and 2) maternal toxicity resulting from alcohol abuse, use of aminopterin, and, possibly, trimethadione. A pattern of malformations that was similar and thus suggestive of a common cause was noticed among malformations attributed to phenylketonuria, diabetes mellitus, aminopterin, alcohol, warfarin, phenytoin, phenobarbital, trimethadione, and valproic acid. On reviewing 234 studies of agents tested in hamsters, mice, rats and rabbits, a fairly strong association between maternal toxicity and embryo-fetal mortality was observed. Further, a consistent pattern of fetal malformations associated with maternotoxic effects was discovered in a survey of 476 studies of agents tested in these four species. In these reviews, it was postulated that maternal toxicity per se could possibly cause such fetal effects. For evaluating maternotoxic effects in experimental studies, the minimum maternal data required would be frequent measurements of maternal body weight and food consumption, signs of altered behavior, death, and gross lesions at necropsy.
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PMID:Maternal toxicity in humans and animals: effects on fetal development and criteria for detection. 288 7

Human data were searched to determine whether an association of metabolically or drug-induced maternal toxicity with congenital malformations and intrauterine death would be valid for the human species. Intrauterine death was found to occur in association with maternal homeostatic alterations resulting from phenylketonuria and diabetes, and with maternal toxicity from toxemia of pregnancy, leukemia, burns, alcohol, aminopterin, isotretinoin, and possibly trimethadione. A pattern of anomalies found similar (except for minor differences) and thus suggestive of a possible common cause, was observed among anomalies to phenylketonuria, diabetes mellitus, aminopterin, alcohol, warfarin, phenytoin, phenobarbital, trimethadione, valproic acid, and isotretinoin. The pattern usually consisted of deficiencies in pre- and postnatal development, mid-facial hypoplasia, cleft palate, atrial or ventricular septal defects, patent ductus arteriosus, hypospadias, hernias, and other less frequent anomalies. The pattern is tentatively associated with alterations in maternal physiology resulting from phenylketonuria and diabetes; maternal toxicity of aminopterin, alcohol, and diverse factors co-occurring with warfarin use; and therapeutic doses (generally toxic in adults) of phenytoin, phenobarbital, trimethadione, and valproic acid. Whether these fetal malformations and intrauterine deaths would occur at nonmaterno-toxic levels of the above teratogenic agents, and, consequently, the strength of the associations could not be estimated for lack of data. However, human data seem to provide some, though weak, support and not to contradict the previous assumption formulated from animal studies that maternal toxicity may be causally related to fetal malformations and embryo-fetal mortality.
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PMID:Maternal toxicity of drugs and metabolic disorders--a possible etiologic factor in the intrauterine death and congenital malformation: a critique on human data. 330 23

A simple and reliable method is described which is suitable for estimation of a whole blood phenylalanine concentration for the patient with PKU in various settings including the physician's office and the home. Excellent correlations were obtained between this method and weighed phenylalanine standards, as well as with measurement of phenylalanine in serum, plasma, and whole blood, using the McCaman-Robins fluorometric assay. Increasing the frequency and rapidity of feedback to the patient should improve metabolic control, just as home glucose monitoring has for the patient with diabetes mellitus. This method is immediately adaptable to monitoring patients with tyrosinemia, and with substitution of the appropriate amino acid ammonia lyase could be used for other amino acidemias.
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PMID:Blood phenylalanine estimation for the patient with phenylketonuria using a portable device. 335 20


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