• Journal of mucopolysaccharidosis and rare diseases
• /
• v.5 no.1
• /
• pp.8-11
• /
• 2021

Glutaric aciduria type 1 (GA1; OMIM #231670) is a rare autosomal recessive-inherited neurometabolic disorder caused by the deficiency of glutaryl-CoA dehydrogenase (GCDH), which is encoded by the GCDH gene. It results in the accumulation of glutaric acid (GA), 3-hydroxyglutaric acid (3-OH-GA), glutaconic acid, and glutarylcarnitine (C5DC). These metabolites are considered to damage the striatum through an excitotoxic mechanism. The treatments of GA1 known to date are metabolic maintenance treatment based on a low-lysine diet and emergency treatment during acute illness. However, treatment after the onset of neurological symptoms has limited effectiveness and is associated with poor outcomes, and the effect of treatment and disease course after treatment are not good. After the implementation of newborn screening, the incidence of acute encephalopathic crisis fell to 10%-20% with early diagnosis, preventative dietary management, and aggressive medical intervention during acute episodes. Recently, several cohort studies have been published on the natural course and treatment of GA1 patients. This mini review will cover the clinical symptoms, natural history, and treatment of GA1 through a literature review.

• Journal of mucopolysaccharidosis and rare diseases
• /
• v.2 no.1
• /
• pp.1-4
• /
• 2016

Mucolipidosis type II (MLII; MIM#252500) and type III alpha/beta (MLIIIA; MIM#252600) very rare lysosomal storage disease cause by reduced enzyme activity of GlcNAc-1-phosphotransferase. ML II is caused by a total or near total loss of GlcNAc-1-phosphotransferase activity whether enzymatic activity in patient with ML IIIA is reduced. While ML II and ML III share similar clinical features, including skeletal abnormalities, ML II is the more severe in terms of phenotype. ML III is a much milder disorder, being characterized by latter onset of clinical symptoms and slower progressive course. GlcNAc-1-phosphotransferase is encoded by two genes, GNPTAB and GNPTG, mutations in GNPTAB give rise to ML II or ML IIIA. To date, more than 100 different GNPTAB mutations have been reported, causing either ML II or ML IIIA. Despite development of new diagnostic approach and understanding of disease mechanism, there is no specific treatment available for patients with ML II and ML IIIA yet, only supportive and symptomatic treatment is indicated.

• Nuclear Medicine and Molecular Imaging
• /
• v.42 no.1
• /
• pp.77-78
• /
• 2008

A 71-year-old woman was assigned to our department for Tc-99m myocardial perfusion SPECT(MPS) and coronary CT angiography. She admitted for substernal pain, via the ER, 2 days ago. The heart was scanned after intravenous injection of 925 MBq of $^{99m}Tc$-sestamibi adenosine-induced stress SPECT using dual head gamma camera (Hawkeye, GE healthcare. USA). The MPS shows decreased tracer uptake in the apical & mid area of anterior & lateral wall and mid & basal inferior wall. Coronary CT angiograph was obtained using Discovery VCT (GE healthcare). 3D angiography portrayed significant stenosis of ramus intermedius(RI) and posterolateral branch of right coronary artery(PLB) with fibrocalcified plaque. Two images were fused using Cardiac IQ fusion softwear package (Advantage workstation 4.4, GE healthcare) The fusion images explain the perfusion defect of anterior, lateral and inferior wall is due to stenosis of the RI and PLB. And 3 days later, coronary angiography was done and revealed the marked stenosis of RI and PLB. Then balloon angioplasty and stent was instituted in RI. Cardiac SPECT/CT fusion imaging provides additional information about hemodynamic relevance and facilitates lesion interpretation by allowing exact allocation of perfusion defects to its subtending coronary artery.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.14 no.2
• /
• pp.178-181
• /
• 2014

Hunter syndrome (mucopolysaccharidosis type II, MPS II) is a X-linked lysosomal storage disease caused by a deficiency in the lysosomal enzyme, iduronate-2-sulfatase (IDS), leading to accumulation of glycosaminoglycans within lysosomes of many organs and tissues. Since the enzyme replacement therapy was approved and available in the treatment of MPS I, II, VI, early diagnosis and early therapy can bring the better prognosis of disease and the better quality of life in patients. We described a 2.5 year old child presented with frequent otitis media and developmental delay including speech impairment, who was diagnosed as Hunter syndrome with IDS NM_000202.5:c. 263G>A(p.Arg88His) mutation.

• Journal of mucopolysaccharidosis and rare diseases
• /
• v.4 no.1
• /
• pp.1-6
• /
• 2018

Lysosomal storage disorders are a group of rare inherited metabolic disorders with protean manifestations and variable severity ranging from attenuated forms to severe ones. It is necessary to diagnose and manage these disorders timely before irreversible damage occurs. Prior to the era of enzyme replacement therapy and newer therapeutics, only treatment option available was palliative care. Over the past two decades, extensive research in the lysosomal storage disorders has led to substantial expansion of our understanding about them. This mini review focusses on the spectrum, challenges faced in the diagnosis and therapy and remedial actions taken so far in lysosomal storage disorders in resource constrained country like India.

• Journal of mucopolysaccharidosis and rare diseases
• /
• v.1 no.1
• /
• pp.19-22
• /
• 2015

In Growth Hormone (GH) therapy, suboptimal adherence is a common problem, reaching up to 82%, and there is a need for interventions to improve adherence and to maximize patients' growth potential eventually. Current studies have demonstrated the association between the rate of non-adherence and reduced height velocity. In order to maximize patients' potential to grow, an auto-injecting/recording device, such as $easypod^{TM}$, may help improve adherence and optimize the treatment effects of GH therapy. The use of $easypod^{TM}$ has contributed to high adherence rates: 87.5% and 93% in Bozzola et al.'s study and the $Easypod^{TM}$ Connect Observational study (ECOS), respectively. Improvement of adherence by $easypod^{TM}$ may lead to higher growth rates of patients receiving GH therapy. Additionally, patients' positive acceptability of $easypod^{TM}$ suggests $easypod^{TM}$ is a preferred device by patients for better adherence.

• Journal of mucopolysaccharidosis and rare diseases
• /
• v.1 no.1
• /
• pp.23-27
• /
• 2015

Recent research trends of human growth hormone (hGH) are divided into improved first-generation products, long-acting second-generation products, and biosimilar products. Among the improved first-generation products studies, studies of injection devices are being actively conducted. The long-acting second-generation products are focused on extending the half-life of hGH, and depending on the results of the clinical trials, the candidates are expected to lead the future hGH market. Finally, biosimilar has had less impact on the hGH market before now; however, expectations of low-cost products still remainas an opportunity.

• Journal of mucopolysaccharidosis and rare diseases
• /
• v.1 no.1
• /
• pp.15-18
• /
• 2015

Biopharmaceuticals, with their ability to treat many unmet needs, are seen as promising medications in diabetes mellitus, growth hormone deficiency, chronic renal failure, cancer, and rheumatoid arthritis. However, almost all biopharmaceuticals should be administrated by injection; IV, IM, and SC. In addition, these treatments are long term, and patients should receive frequent injections for many years. Patient compliance is therefore of critical importance to ensure treatment benefits. Therefore, the goal of drug product development should be focused on improving patient compliance by reducing injection-associated pain as well as stable formulation development. This review will suggest the kinds of factors that should be considered to minimize injection pain with regard to formulation, device, and injection procedures focused on SC injections.

• Journal of mucopolysaccharidosis and rare diseases
• /
• v.1 no.1
• /
• pp.28-30
• /
• 2015

Biologics present a challenge to both the manufacturer and end user. They must usually be formulated as parenterals. However, they are often unstable in liquid form, due to their complex structure and composition. In that case, they must be manufactured using highly specialized processes, such as lyophilization (freeze-drying). Lyophilization nearly eliminates stability issues. Reducing a compound's sensitivity to temperature prolongs its shelf life. However, reconstitution can be cumbersome, involving multiple steps that increase the potential for error. Dual-chamber technology provides an effective alternative, combining a lyophilized drug and diluent in a closed system and enabling reconstitution in a few simple steps.

• Journal of the Korean Society of Systems Engineering
• /
• v.14 no.1
• /
• pp.36-43
• /
• 2018

The availability of the weapon system can be analyzed through state modeling and simulation using the Markov process. In this paper, show how to analyze the availability of the weapon system and can use the Markov process to analyze the system's steady state as well as the RAM at a transient state in time. As a result of the availability analysis of tracked vehicles, the inherent availability was 2.6% and the operational availability was 1.2% The validity criterion was defined as the case where the difference was within 3%, and thus it was judged to be valid. We have identified the faulty items through graphs of the number of visits per state among the results obtained through the MPS and can use them to provide design alternatives.