Nutritional status of some micronutrients and trace elements in patients with phenylketonuria

Children with special needs; those having inborn errors of metabolism are prone to certain micronutrient deficiencies either due to rigid therapeutic dietary restriction, aversion to certain food stuffs or due to recurrent episodes of vomiting and diarrhea. This will eventually ensue if no parallel specific elemental replacement measures are carried out. Micronutrient deficiencies often occur concurrently, and there are many interactions between micronutrients. Children with phenylketonuria [PKU] are treated with semi-synthetic formula containing low phenylalanine [Phe] content. It provides the majority of protein and energy in the diet while the rest of phenylalanine are met by low protein natural foods. Because of the restricted intake of high biological value protein, children with PKU are often expected to have lower than normal plasma concentrations of certain micronutrients. The aim of the study is to assess the effects of phenylalanine restricted diet on the growth of our PKU patients after one year of dietary management. We also aimed to investigate the nutritional status of the following trace elements and micro-nutrients; zinc, copper, vitamins C, E, A, and B-carotene among 17 PKU patients following dietary coupled with multivitamin supplementation. Data were compared to those of their matched normal controls. PKU patients were found to have marginal vitamin A deficiency as the mean plasma level was 25.2 +/- 6.62ug/dl versus 48.5 +/- 10.1ug/dl of their control. The difference was very highly significant [p<0.0001]. Mean plasma levels of B-carotene was also less than that of controls with a highly significant difference [50.65 +/- 15.37ug/dl Vs.-75.80 +/- 19.60ug/dl; p<0.001]. Mean plasma levels of zinc, copper, vitamins C and E were comparable to those of controls without statistical significance [p>0.05]. Physical growth parameters were not significantly different between the two groups. A basic nutritional care plan for dietary intervention managing PKU children should involve periodic assessment of protein and calorie nutritional status in addition to regular careful evaluation of micronutrient nutritional status

Study of chromosomal abnormalities in childhood epilepsy with dysmorphism

Various chromosomal abnormalities have been found in patients with epilepsy and epileptic syndromes. Genetic linkage and karyotype analysis may provide cytogenetic clues leading to the identification of genes linked to specific types of epilepsy. This study is aimed to evaluate the chromosomal abnormalities and specific chromosomal regions in cases of childhood epilepsy with dysmorphism. The present study included 40 epileptic patients with dysmorphic features, 22 males and 18 females, their ages ranged between 27 months and 9.5 years with mean and standard deviation 4.32 +/- 2.89 years All patients had at least two attacks of unprovoked afebrile seizures greater than 24 hours apart. A thorough history taking about fits, general as well as neurological examination with special emphasis on any associated anomalies. EEG, IQ and CT were carried out in all patients, while MRI brain was done for some cases. Chromosomal study included karyotyping and fluorescence in situ hybridization [FISH] were done for all cases. Our results showed: 22 [55%] patients had normal karyotype [first group] while 18 patients [45%] had chromosomal aberrations [second group]. The frequency of various types of chromosomal aberrations among the studied patients was: Eight patients [44%] had trisomy 21 [Down syndrome], three patients [16.5%] had Turner [45x] syndrome, one patient [5.5%] had trisomy 18 [Edwards syndrome], one patient [5.5%] had deletion of short arm of chromosome 18 one patient [5.5%] had deletion of long arm of chromosome 15 [Angelman syndrome], one patient [5.5%] had deletion of long arm of chromosome 13, one patient [5.5%] had deletion of long arm of chromosome 7 [Williams syndrome], one patient [5.5%] has deletion of long arm of chromosome 4 and one patient [5.5%] had duplication of long arm of chromosome 20. There was significant difference between the two groups in developmental milestones. Consanguineous marriage was found in 22.7% of the first group versus 33% of second group. Cerebral atrophy was found in three patients [13.5%] of the first group and in five patients [27.5%] of the second group. Cerebellar atrophy was found in one patient [5.5%] of the second group. A genesis of corpus callosum was found in one patient [5.5%] of the second group. The present study reinforces the findings of the significant association between some chromosomal aberrations and epilepsy. These include: Trisomy 21, trisomy 18, Turner syndrome and abnormallties of regions 4q, 7q and 15q. Other regions associated with epilepsy were decteded: 13q, 18p and 20q. Further investigation into these regions may lead to discovery of new genes involved in epileptogenesis. The present study directs the attention of the clinicians about the importance of dysmorphic features in the evaluation of epileptic patients. In recommendation, karyotype should be performed in a child with seizures and dysmorphic features. Further advanced molecular studies about genetic basis of epilepsy are recommended

Oro-dental abnormalities in patients with mental retardation

The present study included 132 cases with mental subnormality. The aim of the present work was to investigate the prevalence of the oral and dental abnormalities in patients with mental retardation and to delineate the most common patterns of presentation associated with oro-dental abnormalities. All patients were subjected to full history taking, thorough oro-dental examination and IQ assessment. Chromosomal studies and metabolic screening were done when needed. It was concluded that oro-dental abnormalities are more frequent in patients with severe or profound mental retardation. The oral region abnormalities represent a major problem in the oral health of patients with mental retardation. Medical dental services and care were recommended for the affected cases, since there is no national oral disease prevalence data for patients with mental retardation and developmental disability

Genetic and etiologic classification of familial convulsions

This work included 53 subjects [26 patients with convulsions from 13 families and 27 relatives]. They were subjected to full clinical, genetic and neuropsychiatric examination, pedigree construction, electroencephalography [EEG] and metabolic screening for inborn errors of amino acid metabolism. The results added further evidence to genetic heterogeneity of familial convulsions. Consanguinity was found in 66.7% of cases suggesting a major role played by autosomal recessive genes in the etiology of convulsions in Egypt. Abnormal EEG was found in 61.5% of all the studied cases, and in 46% of the parents suggesting inherited susceptibility. Mental retardation was found in 53.8% of the cases, all of them had abnormal EEG. This shows significant association between mental retardation and EEG abnormality

Genetic heterogeneity of isolated microcephaly

Thirty four cases presenting with isolated microcephaly were ascertained from the outpatient clinic of Human Genetics Department [HGD], The National Research Center [NRC] in the last 2 years. Eight cases were familial in 4 families, [2 affected sibs in each], and 26 sporadic cases. Positive consanguinity was found in 64% of all the cases. It was possible to classify our cases according to their etiology into the following: [1] Genetic causes: a- Microcephaly with spastic paraplegia and or quadriplegia: 16 cases [6 familial and 10 sporadic]. b- Microcephaly with eye manifestations [optic atrophy or chorioretinopathy] 6 sporadic cases. c- Metabolic causes [3 cases, 2 familial and 1 sporadic]. 2] Enviromental causes in 9 cases [all sporadic]. This study emphasizes the etiologic heterogeneity of isolated microcephaly, the preponderance of autosomal recessive forms and that consanguinity plays a major role in its etiology in our society

Genetic studies on retinitis pigmentosa

Our study included 50 cases with retinitis pigmentosa [RP] as an isolated anomaly. Patients with syndromes associated with RP were excluded. Twenty seven cases were familial and 23 cases were sporadic. Pedigree patterns were examined in familial cases. Consanguinity was search for in both familial and sporadic cases. Electo-retinogram [ERG] showed extinguished curves in two familial cases without fundus changes. Amino acids were estimated in blood and urine for 5 cases with different patterns of inheritance. Reduced threonine and histidine levels in blood was noticed in autosomal dominant and recessive cases and normal levels in the X-linked cases