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I-cell Disease

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The text is the summary of recent articles on I-cell Disease at 75 thresold from National Library of Medicine (NLM). This information is subject to NCBI's Disclaimer and Copyright notice.


We report the progression of polysomnographic abnormalities in a Child with mucolipidosis II, demonstrated by worsening sleep-related hypoventilation, OSA, and sleep state fragmentation despite advancing PAP therapy [1]. Subsequent cardiac catheterization confirmed atresia of the left main coronary artery [2]. The patient underwent Cardiac Surgery with coronary artery bypass grafting of the left internal mammary artery to the left anterior descending coronary artery [3]. Repeat Cardiac catheterization revealed stenosis of the right Proximal coronary artery, raising concern for progressive coronary involvement [4]. These cargo molecules follow the secretory pathway, which is a vital part of cellular trafficking machinery in all eukaryotic Cells [5].

It has remained unresolved, however, whether acid hydrolase binding is required for exit of the CI-MPR from the TGN [6]. These data show that there is no block in TGN exit of the CI-MPR in the absence of Man-6-P-modified acid hydrolases [7]. Most cargo is sorted within, and exits from, the trans-Golgi network (TGN) [8]. An 11-month-old Child presented with abnormal Head Shape, developmental delay and bent Bones [9]. We report here pathological findings of an autopsy case of mucolipidosis type ii [10].

The patient was an 8-year-old boy with mucolipidosis type ii and was complicated with hypertrophic cardiomyopathy [11]. He suddenly developed Progressive respiratory failure and finally died [12]. Niemann-Pick disease-C (NPC) was confirmed by fibroblasts study using filipin stain [13]. The second patient had a much better outcome because of prompt diagnosis and was able to undergo Bone marrow transplant as a result [14]. This method describes the derivatization of oligosaccharides present in urine with phenyl-1-methylpyrazolone, which renders them hydrophobic, thus allowing desalting with Combi cleanup columns prior to injection [15].

A model system, consisting of cultured skin fibroblasts from patients with mucopolysaccharidoses (MPS), showed that their defective glycosaminoglycan catabolism could be corrected by factors derived from Cells of a different genotype [16]. For this reason we developed a mixed mode liquid chromatography tandem Mass spectrometry assay for the screening of the oligosaccharidoses which potentially mitigates many of the problems associated with thin layer chromatography [17]. MLII is an Autosomal recessive disease with a carrier rate estimated at 1/39 in Saguenay-Lac-Saint-Jean (SLSJ) (Quebec, Canada), which is the highest frequency documented worldwide [18]. The Bone disease in these patients is believed to be due to hyperparathyroidism [19]. We report a case where Bone disease was present at birth but the parathyroid hormone levels were initially normal and did not increase until 37 d of age [20].

Supplemention with Vitamin D was needed to normalize the parathyroid hormone levels despite adequate intake of Vitamin D, calcium and phosphorus [21]. Here, we applied the Qproteometrade mark GlycoArray kit to perform glycan analysis of heparanase, and compared the kit results with the more commonly used biochemical analyses [22]. Iodinated heparanase has been utilized to calculate binding affinity [23]. Here we report on an adolescent with progressive joint contractions and other signs of mucolipidosis II who survived to the age of 14 years [24]. The activities of serum alkaline phosphatase and parathyroid hormone were markedly elevated [25].

We conclude that early skeletal manifestation of mucolipidosis type ii is not clearly identified and that differentiation from congenital rickets or congenital hyperparathyroidism could be difficult [26]. These six patients exhibited a wide spectrum of clinical abnormalities, in particular shortened extremities: they included three patients with unknown causes of clinical symptoms, one patient with Sanfilippo disease, one of the seven patients with achondroplasia, and one with hypophosphotemic rickets [27]. The oligosaccharides were referenced against the internal standard, methyl lactose, to produce ratios for comparison with control samples [28]. This case expands the phenotypic spectrum of mucolipidosis type ii [29]. No useful markers were identified for krabbe disease, MPS II, Pompe disease, and Sandhoff disease [30].

References: 1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 ,

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