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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.


(2)Genetic Clinic, Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, 221005, Uttar Pradesh, India [1]. (2)Department of Pediatrics, Division of Pulmonology, University of North Carolina at Chapel Hill [2]. (3)Department of Pediatrics, Division of Genetics and Metabolism, University of North Carolina at Chapel Hill [3]. 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 [4]. Subsequent cardiac catheterization confirmed atresia of the left main coronary artery [5].

The patient underwent Cardiac Surgery with coronary artery bypass grafting of the left internal mammary artery to the left anterior descending coronary artery [6]. Repeat Cardiac catheterization revealed stenosis of the right Proximal coronary artery, raising concern for progressive coronary involvement [7]. These cargo molecules follow the secretory pathway, which is a vital part of cellular trafficking machinery in all eukaryotic Cells [8]. It has remained unresolved, however, whether acid hydrolase binding is required for exit of the CI-MPR from the TGN [9]. 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 [10].

Most cargo is sorted within, and exits from, the trans-Golgi network (TGN) [11]. An 11-month-old Child presented with abnormal Head Shape, developmental delay and bent Bones [12]. We report here pathological findings of an autopsy case of mucolipidosis type ii [13]. The patient was an 8-year-old boy with mucolipidosis type ii and was complicated with hypertrophic cardiomyopathy [14]. He suddenly developed Progressive respiratory failure and finally died [15].

Niemann-Pick disease-C (NPC) was confirmed by fibroblasts study using filipin stain [16]. The second patient had a much better outcome because of prompt diagnosis and was able to undergo Bone marrow transplant as a result [17]. 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 [18]. 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 [19]. 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 [20].

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 [21]. The Bone disease in these patients is believed to be due to hyperparathyroidism [22]. 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 [23]. Supplemention with Vitamin D was needed to normalize the parathyroid hormone levels despite adequate intake of Vitamin D, calcium and phosphorus [24]. 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 [25].

Iodinated heparanase has been utilized to calculate binding affinity [26]. Here we report on an adolescent with progressive joint contractions and other signs of mucolipidosis II who survived to the age of 14 years [27]. The activities of serum alkaline phosphatase and parathyroid hormone were markedly elevated [28]. 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 [29]. 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 [30].

The oligosaccharides were referenced against the internal standard, methyl lactose, to produce ratios for comparison with control samples [31]. This case expands the phenotypic spectrum of mucolipidosis type ii [32]. No useful markers were identified for krabbe disease, MPS II, Pompe disease, and Sandhoff disease [33].

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 , 31 , 32 , 33 ,

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