Glycogen storage disease type III in Egyptian children: a single centre clinico-laboratory study

Glycogen storage disease type III [GSD III] is an autosomal recessive disorder caused by deficiency of glycogen debrancher enzyme and is characterised by clinical variability. We herein describe the clinical and laboratory findings in 31 Egyptian patients with GSD III presenting to the Paediatric Hepatology Unit, Cairo University, Egypt. Eighteen patients [58%] were males. Their ages ranged between 6 months to 12 years. The main presenting complaint was progressive abdominal distention in 55%. Twelve patients [38.7%] had a history of recurrent attacks of convulsions; four had an erroneous diagnosis of hypocalcaemia and epilepsy. Dolllike facies was noted in 90%. Abdominal examination of all cases revealed abdominal distention and soft hepatomegaly which had bright echogenicity by ultrasound. Hypertriglyceridaemia was present in 93.6%, hyperlactacidaemia in 51.6% and hyperuricaemia in 19.4%. Liver biopsy showed markedly distended hepatocytes with well distinct cytoplasmic boundaries and 32% had macrovesicular fatty changes. Serum creatine kinase was elevated in 64.6% of patients and correlated positively and significantly with age [r = 0.7 and P = <0.001], while serum triglycerides correlated negatively with age [r = -0.4 and P = 0.05]. Blood glucose assessment and search for hepatomegaly in an infant with recurrent seizures may prevent delay in the diagnosis. A huge soft liver reaching the left midclavicular line that appears echogenic on ultrasonography is characteristic of GSD III. A distended hepatocyte with rarified cytoplasm is pathognomonic but not diagnostic. Hypertriglyceridaemia correlates negatively with age, in contrary to CK level

Screening for phenylketonuria and galactosemia among Egyptian newborns in Menoufiya governorate

Was to study the prevalence of phenylketonuria and galactosemia in Menoufiya Governorate newborns. Among 3000 newborns, their mean ages were 9.3 +/- 2.43 days; mean weight was 3.1 +/- 0.82 Kg. Among them 1800[60%] males and 1200 [40%] females who attended the central hospital and medical units for BCG vaccination in the duration from March 2005 to May 2008. The results showed that the mean of phenylalanine level was 3.19 +/- 1.82 mg/dl and the mean total galactose level was 3.34 +/- 2.23mg/ dl, among the 3000 neonates, 2183 [72.8.%] had phenylalanine levels ranging from 2-5 mg /dl, 705 [23.5%] had levels ranging from 5-7 mg/dl, 111[3.7%] had levels ranging from 7-10 mg/dl and one newborn [0.033%] had phenylalanine level of 22 mg/dl. The results for galactosemia screening assay showed that 2528 neonates [84.3%] had galactose levels ranging from 2-6 mg/dl, 450 [15%] had levels ranging from 6-8 mg/dl, 21[0.7%] had levels ranging from 8-12 mg/dl and one newborn [0.033%] had galactose level of 19 mg/dl. The child was reassayed and was found to be true hypergalactosemia l20mg/dl. We concluded that the prevalence of each of phenylketonuria and galactosemia in Menoufiya Governorate in the 3000 newborn tested was 1/3000 [0.03%]. So, we estimate that about 333 neonates are affected every year with PKU and 333 with galactosemia as one million babies are born yearly, which could be prevented. The prevention of such treatable disorders depends on planning an efficient screening programme especially within three weeks after birth. So we recommend multicenter studies to encourage national neonatal screening programmes specialy for these treatable diseases

Inborn errors of metabolism revealed by organic acid profile analysis in high risk Egyptian patients: six years experience

To determine the prevalence and types of inborn errors of amino acid or organic acid metabolism in a group of high risk Egyptian children with clinical signs and symptoms suggestive of inherited metabolic diseases. 117 [79 males = 67.5% and 38 females = 32.5%] high risk patients with signs and symptoms of a metabolic disorder were studied, their ages ranged from 3 days to 12 years. Analysis of urine organic acids by gas chromatography/mass spectrometry [GC/MS] was performed to all patients. 22[18.8% of the total] cases were diagnosed with different types of aminoacidopathies or organic acidurias. The disease profile showed increased lactate in 12 cases [54%], glutaric aciduria type I 3 cases [13%], phenylketonuria 2 cases [9%], maple syrup urine disease 1 case [4.5%], glutaric aciduria type II 1 case [4.5%], methylmalonic aciduria 1 case [4.5%], Canavan disease 1 case [4.5%] and non ketotic hyperglycemia 1 case [4.5%]. The results demonstrate the importance of the organic acid profile in the diagnosis of high risk patients. The diagnosed organic acid pattern in this study showed that 10.2% of the patients had a mitochondrial energy defect

Hepatomegaly: a major clinical sign in some metabolic disorders

This study included 18 cases with hepatomegaly referred to the Human Genetics Department, National Research Centre with a suspicion of a metabolic disorder from 2006 to 2008. The aim of our study was to find out the importance of hepatomegaly as sign for many metabolic disorders and their frequency among other disorders with hepatomegaly. All cases were subjected to clinical and biochemical studies. 12 cases, 66%, [10 males 83.4% and 2 females 16.6%] were diagnosed with a metabolic disease. 8 cases with mucopolysaccharidosis [MPS] [3 cases MPS I, 3 cases MPS II, one case MPS III and one case MPS VI]; one case with glycogen storage disease [GSD]; one case with galactosemia and 2 cases with Niemann-Pick disease type C. 75% of the diagnosed cases showed positive consanguinity and the remaining 25% were three patients with MPS II with an X linked mode of inheritance

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