书目名称 | JIMD Reports, Volume 22 | 编辑 | Johannes Zschocke,Matthias Baumgartner,Verena Pete | 视频video | http://file.papertrans.cn/501/500060/500060.mp4 | 概述 | Unique collection of case and research reports on rare metabolic disorders.Contains unusual or previously unrecorded features relevant to metabolic disorders.All contributions rigorously peer-reviewed | 丛书名称 | JIMD Reports | 图书封面 |  | 描述 | JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder or serve as an important reminder of clinical or biochemical features of a Mendelian disorder. | 出版日期 | Book 2015 | 关键词 | Mendelian disorder; endocrinology; inherited metabolic diseases; medical genetics; pediatrics; metabolic | 版次 | 1 | doi | https://doi.org/10.1007/978-3-662-47453-2 | isbn_softcover | 978-3-662-47452-5 | isbn_ebook | 978-3-662-47453-2Series ISSN 2192-8304 Series E-ISSN 2192-8312 | issn_series | 2192-8304 | copyright | SSIEM and Springer-Verlag Berlin Heidelberg 2015 |
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Front Matter |
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Abstract
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,Innate and Adaptive Immune Response in Fabry Disease, |
Wladimir Mauhin,Olivier Lidove,Elisa Masat,Federico Mingozzi,Kuberaka Mariampillai,Jean-Marc Ziza,Ol |
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Abstract
Fabry disease is an X-linked lysosomal storage disease in which mutations of the gene (GLA) cause a deficiency of the lysosomal hydrolase α-galactosidase A (α-Gal). This defect results in an accumulation of glycosphingolipids, primarily globotriaosylceramide (Gb3) which causes a multisystemic vasculopathy. Available since 2001 in Europe, enzyme replacement therapy consists in the administration of agalsidase, a recombinant form of α-galactosidase A. Enzyme replacement therapy was shown to improve the global prognosis but allowed partial success in preventing critical events such as strokes and cardiac arrests. As in most lysosomal storage diseases, frequent immune reactions have been described in naive Fabry disease patients. Humoral immune responses following enzyme replacement therapy have also been described, with unclear consequences on the progression of the disease. While cost-effectiveness of enzyme replacement therapy in Fabry disease begins to be questioned and new therapeutic strategies arise such as chaperone or gene therapy, it appears necessary to better understand the immune responses observed in the treatment of naive patients and during enzyme replacement therapy wi
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,Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism, |
Majid Alfadhel,Muhammad Talal Alrifai,Daniel Trujillano,Hesham Alshaalan,Ali Al Othaim,Shatha Al Ras |
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Abstract
.: Asparagine synthetase deficiency (ASD) is a newly identified neurometabolic disorder characterized by severe congenital microcephaly, severe global developmental delay, intractable seizure disorder, and spastic quadriplegia. Brain MRI showed brain atrophy, delayed myelination, and simplified gyriform pattern...: We report ASD deficiency in a 2- and 4-year-old sibling. On them, we described clinical, biochemical, and molecular findings, and we compared our results with previously reported cases...: We identified a homozygous novel missense mutation in . gene in both probands and we demonstrated low CSF and plasma asparagine in both patients...: Clinicians should suspect ASD deficiency in any newborn presented with severe congenital microcephaly followed by severe epileptic encephalopathy and global developmental delay. CSF asparagine level is low in this disorder while plasma may be low.
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,Occurrence of Malignant Tumours in the Acute Hepatic Porphyrias, |
Estefanía Lang,Martin Schäfer,Holger Schwender,Norbert J. Neumann,Jorge Frank |
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Abstract
The porphyrias are a group of inherited metabolic diseases resulting from enzymatic deficiencies of specific haem biosynthetic enzymes. They can be classified as primarily acute and non-acute types. Clinically, the acute hepatic porphyrias (AHPs) are characterised by acute neurovisceral attacks. Patients with AHP may be at increased risk for development of hepatocellular carcinoma (HCC). However, systematic studies on the occurrence of other malignancies in patients with the AHPs have not been performed to date. Here, we studied the development of HCC and distinct malignant tumours in patients with the AHPs registered in a single European porphyria specialist centre. A questionnaire was designed and sent to all individuals (. = 122) diagnosed between 1970 and 2012 of whom a valid address was available (. = 82), requesting information on their personal and family history of cancer. Statistical analysis was performed to calculate incidence, prevalence and relative risk of HCC. To calculate confidence intervals, a Poisson distribution was assumed. Forty-nine patients (59.8%) returned a completed questionnaire. Overall, HCC was diagnosed in one female (2.1%), and the remaining patients
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,Improvement in Bone Mineral Density and Architecture in a Patient with Gaucher Disease Using Teripa |
Aneal Khan,David A. Hanley,Colleen McNeil,Steven Boyd |
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Abstract
Gaucher disease is an autosomal recessive lysosomal storage disorder caused by deficiency of the enzyme acid beta-glucosidase (glucocerebrosidase) due to mutations in the GBA gene. The most common form (type I) is associated with severe hematologic, visceral and bone disease. Disease-modifying treatments, such as enzyme replacement therapy and substrate reduction therapy, can improve the hematologic and visceral aspects of the disease but success with improving severe osteopenia, which can increase the risk of fractures, is limited. Our case involves a patient with complex disease affecting bone health including Gaucher disease (type I), Sjögren syndrome, rheumatoid arthritis and corticosteroid use who did not respond to long term use of bisphosphonates. We report an improvement in bone mineral density and bone architecture commensurate with a reduced incidence of fractures in whom we used teriparatide (human parathyroid hormone (PTH; 1-34) to treat severe osteopenia. We conclude that teriparatide should be considered for further studies as an agent to improve bone mineral density in patients with Gaucher disease.
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,Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IM |
Stefan Kölker,Dries Dobbelaere,Johannes Häberle,Peter Burgard,Florian Gleich,Marshall L. Summar,Stev |
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Abstract
.: Patients with organic acidurias (OAD) and urea cycle disorders (UCD) are at increased risk of disability, impaired quality of life and reduced life expectancy. Clinical care in any one centre is constrained by small patient numbers; and furthermore diagnostic and treatment strategies vary between metabolic centres and countries, resulting in significant inequalities and disparity in patient outcome.../.: The overall objective of the EU-funded activity ‘European registry and network for intoxication type metabolic diseases’ (E-IMD) is to collect systematic data to improve the knowledge of these diseases, to develop consensus care guidelines and to provide detailed information materials for families and professionals...: Within three years E-IMD has (1) established a network of 87 partners in 25 countries (2) set up a patient registry of more than 1,000 individuals with OAD and UCD, (3) launched a website (.) including detailed information materials in 11 languages, (4) developed guidelines for OAD and UCD, (5) organised two teaching courses and various scientific meetings, (6) extended the IT platform clustering with other inherited metabolic diseases (IMD) and (7) strengthened t
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,Two Novel Mutations in the , Gene in a Patient with Mitochondrial Myopathy, |
I. M. L. W. Körver-Keularts,M. de Visser,H. D. Bakker,R. J. A. Wanders,F. Vansenne,H. R. Scholte,L. |
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Abstract
In a 28-year-old male with a mild mitochondrial myopathy manifesting as exercise intolerance and early signs of cardiomyopathy without muscle weakness or ophthalmoplegia, we identified two novel mutations in the . gene: c.707G>C in exon 3 (p.(R236P)) and c.116_137del in exon 2 (p.(Q39Lfs*14)). Serum lactate levels at rest were elevated (12.7 mM). Both the patient’s father and brother were heterozygous carriers of the c.707G>C mutation and were asymptomatic. The second mutation causes a 22 bp deletion leading to a frame shift likely giving rise to a premature stop codon and nonsense-mediated decay (NMD). The segregation of the mutations could not be tested directly as the mother had died before. However, indirect evidence from NMD experiments showed that the two mutations were situated on two different alleles in the patient. This case is unique compared to other previously reported patients with either progressive external ophthalmoplegia (PEO) or clear hypertrophic cardiomyopathy with exercise intolerance and/or muscle weakness carrying recessive mutations leading to a complete absence of the SLC25A4 protein. Most likely in our patient, although severely reduced, SLC25A4 is still
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,Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cere |
Michel Mazzuca,Marie-Anne Maubert,Léna Damaj,Fabienne Clot,Marylène Cadoudal,Christele Dubourg,Sylvi |
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Abstract
.: We describe the second patient presenting the combination of two homoallelic homozygous nonsense mutations in two genes distant from 1.8 Mb in the chromosome 2p13-3, the methylmalonyl-CoA epimerase gene (.) and the sepiapterin reductase gene (.)...: The patient was born from consanguineous parents. He has presented a moderate but constant methylmalonic acid (MMA) excretion in urine associated with a mental retardation. The first homozygous mutation was identified in the . gene (c.139C>T; p.Arg47*). Progressive dystonia and cataplexy narcolepsy led to diagnose the second homozygous mutation in the . gene: c.751A>T; p.Lys251*. Sepiapterin reductase deficiency (SRD) was characterized by a defect in tetrahydrobiopterin (BH4), the cofactor of several hydroxylases needed for the synthesis of neurotransmitters. A treatment with .-DOPA/carbidopa and 5-HTP dramatically improved the dystonic posture, the mood and the hypersomnia, proving that the pathogenesis was due to SRD. A supplementation with BH4 did not induce additional clinical benefit, although HVA and HIAA increased in CSF. The polyunsaturated fatty acids were measured in CSF as the markers of the neuronal stress. We have shown
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,Audit of the Use of Regular Haem Arginate Infusions in Patients with Acute Porphyria to Prevent Rec |
Joanne T. Marsden,Simon Guppy,Penelope Stein,Timothy M. Cox,Michael Badminton,Tricia Gardiner,Julian |
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Abstract
The National Acute Porphyria Service (NAPS) provides acute care support and clinical advice for patients in England with active acute porphyria requiring haem arginate treatment and patients with recurrent acute attacks..This audit examined the benefits and complications of regular haem arginate treatment started with prophylactic intent to reduce the frequency of recurrent acute attacks in a group of patients managed through NAPS. We included 22 patients (21 female and 1 male) and returned information on diagnosis, indications for prophylactic infusions, frequency and dose, analgesia, activity and employment and complications including thromboembolic disease and iron overload..The median age at presentation with porphyria was 21 years (range 9–44), with acute abdominal pain as the predominant symptom. Patients had a median of 12 (1–400) attacks before starting prophylaxis and had received a median of 52 (0–1,350) doses of haem arginate. The median age at starting prophylaxis was 28 years (13–58) with a median delay of 4 years (0.5–37) between presentation and prophylaxis. The frequency of prophylactic haem arginate varied from 1 to 8 per month, and 67% patients were documented as
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,Normal Cerebrospinal Fluid Pyridoxal 5′-Phosphate Level in a PNPO-Deficient Patient with Neonatal-O |
Alina Levtova,Stephane Camuzeaux,Anne-Marie Laberge,Pierre Allard,Catherine Brunel-Guitton,Paola Dia |
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Abstract
Deficiency of pyridox(am)ine 5′-phosphate oxidase (PNPO, OMIM 610090) is a treatable autosomal recessive inborn error of metabolism. Neonatal epileptic encephalopathy and a low cerebrospinal fluid (CSF) pyridoxal 5′-phosphate level are the reported hallmarks of PNPO deficiency, but its clinical and biochemical spectra are not fully known. Case presentation: A girl born at 33 3/7 weeks of gestation developed seizures in the first hours of life. Her seizures initially responded to GABAergic agonists, but she subsequently developed a severe epileptic encephalopathy. Brain MRI and infectious and metabolic evaluations at birth, including urinary alpha-aminoadipic semialdehyde (AASA), were normal. Lumbar puncture at age 3 months showed: pyridoxal 5′-phosphate, 52 nmol/L (normal, 23–64); homovanillic acid, 392 nmol/L (normal, 450–1,132); 5-hydroxyindoleacetic acid, 341 nmol/L (normal, 179–711); and 3-ortho-methyldopa, 30 nmol/L (normal, below 300). The patient was not being treated with pyridoxine nor with pyridoxal 5′-phosphate at the time of the lumbar puncture. She died at age 14 months. A sequencing panel targeting 53 epilepsy-related genes revealed a homozygous missense mutation in .
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,Bladder and Bowel Dysfunction Is Common in Both Men and Women with Mutation of the ABCD1 Gene for X |
Johann Hofereiter,Matthew D. Smith,Jai Seth,Katarina Ivana Tudor,Zoe Fox,Anton Emmanuel,Elaine Murph |
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Abstract
.: X-linked adrenoleukodystrophy (X-ALD) is a disorder caused by mutations in the ABCD1 gene. The commonest phenotype of X-ALD is adrenomyeloneuropathy (AMN), which is characterised by involvement of the spinal cord and peripheral nerves. The aim of this study was to evaluate bladder and bowel symptoms in men with AMN and female X-ALD carriers...: In this cross-sectional study, patients with confirmed mutation of the ABCD1 gene attending a tertiary care service were approached about bladder and bowel complaints and completed the Urinary Symptom Profile (USP), Qualiveen Short Form (SF-Qualiveen), International Prostate Symptom Score (IPSS) and Neurogenic Bowel Dysfunction (NBD) questionnaires. Neurological disability was assessed using the Expanded Disability Status Scale (EDSS)...: Forty-eight patients participated, 19 males (mean EDSS score (. = 16) 5.0 (95% CI ± 1.03)) and 29 females (mean EDSS score (. = 25) 3.2 (95% CI ± 0.98)). Overactive bladder (OAB) symptoms were reported in both males (100%, . = 19) and females (86.2%, . = 25). There was no significant gender difference in severity of OAB symptoms (. = 0.35) and impact on quality of life (. = 0.13). Furthermore, there was
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,Extreme Contrast of Postprandial Remnant-Like Particles Formed in Abetalipoproteinemia and Homozygo |
Masa-aki Kawashiri,Hayato Tada,Marowa Hashimoto,Matsuo Taniyama,Takamitsu Nakano,Katsuyuki Nakajima, |
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Abstract
.: Familial hypobetalipoproteinemia (FHBL) and abetalipoproteinemia (ABL) are rare inherited forms of hypolipidemia. Their differential diagnosis is important for predicting of the prognosis and selecting appropriate therapy...: Genetic analysis was performed in two patients with primary hypocholesterolemia born from consanguineous parents. The oral fat tolerance test (OFTT) was performed in one patient with FHBL (apoB-87.77) and one with ABL as well as in four normal control subjects. After overnight fasting, blood samples were drawn. Serum lipoprotein and remnant-like particle (RLP) fractions were determined by HPLC analysis...: Both patients with homozygous FHBL were asymptomatic probably because of preserved levels of fat-soluble vitamins, especially vitamin E. The patients with FHBL were homozygous because of novel apoB-83.52 and apoB-87.77 mutations, and although one of them (apoB-87.77) had fatty liver disease, microscopic findings suggesting nonalcoholic steatohepatitis were absent. Fasting apoB-48 and RLP-triglyceride levels in the patient with homozygous FHBL, which were similar to those in normal control subjects, increased after OFTT both in normal control subjects and
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,Girls with Seizures Due to the c.320A>G Variant in , Do Not Show Abnormal Glycosylation Pattern on |
Bethanny Smith-Packard,Scott M. Myers,Marc S. Williams |
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Abstract
A girl with early onset severe epilepsy, developmental delay, intellectual disability, visual maturation delays, and feeding problems was without a diagnosis despite an extensive genetic and metabolic evaluation. She initially manifested infantile spasms which responded to high-dose ACTH. Seizures seemed to resolve, but then at age 5, she developed complex partial seizures resistant to antiepileptics that responded to a ketogenic diet. Additional features included visual impairment, hypotonia, reflux, and severe feeding problems requiring a G-tube. She was referred to the Geisinger Health System whole-genome sequencing clinical research program. A variant in the X-linked gene . (c.320A->G p. 107 N->S) was identified. Four additional girls from three published exome sequencing studies were found to have the identical c.320A>G variant in .. All presented with early onset severe epilepsy and intellectual disability. Three of the five exhibited visual impairment and possible developmental regression. A boy with a variant in . presented with a severe congenital disorder of glycosylation type Is. Glycosylation studies in the case reported here were normal; none of the other girls reporte
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,Monitoring of Therapy for Mucopolysaccharidosis Type I Using Dysmorphometric Facial Phenotypic Sign |
Stefanie Kung,Mark Walters,Peter Claes,Peter LeSouef,Jack Goldblatt,Andrew Martin,Shanti Balasubrama |
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Abstract
There is a pattern of progressive facial dysmorphology in mucopolysaccharidosis type I (MPS I). Advances in 3D facial imaging have facilitated the development of tools, including dysmorphometrics, to objectively and precisely detect these facial phenotypes. Therefore, we investigated the application of dysmorphometrics as a noninvasive therapy-monitoring tool, by longitudinally scoring facial dysmorphology in a child with MPS I receiving enzyme replacement therapy (ERT) and bone marrow transplantation (BMT). Both dysmorphometric measures showed a decreasing trend, and the greatest differences were found in the severity of facial discordance (Z-RMSE), displaying scores >3 SD higher than the mean at their peak, in comparison to Z-RSD scores that mostly fell within the normative range (maximum; 1.5 SD from the mean). In addition to the general trend of reduced facial dysmorphology with treatment, initial fluctuations were also evident that may have related to transient subcutaneous facial fluctuations, in the context of conditioning for bone marrow transplant. These findings support the potential of our approach as a sensitive, noninvasive, and rapid means of assessing treatment respo
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,Age at First Cardiac Symptoms in Fabry Disease: Association with a Chinese Hotspot Fabry Mutation ( |
Hao-Chuan Liu,Amandine Perrin,Ting-Rong Hsu,Chia-Feng Yang,Hsiang-Yu Lin,Wen-Chung Yu,Dau-Ming Niu |
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Abstract
This is a descriptive analysis of a cohort of 59 Taiwanese patients with Fabry disease and either classical Fabry or cardiac variant IVS4+919G>A (IVS4) mutations from a disease registry, the Fabry Outcome Survey (FOS; sponsored by Shire). Most of our classical Fabry patients were symptomatic and were identified upon seeking medical advice at our clinics, whereas most of our IVS4 patients attended our clinics after newborn screening identified this mutation in their grandsons. The objective was to determine differences in cardiac manifestations between patients with classical Fabry or IVS4 mutations by comparing age at onset of selected cardiac symptoms. Data were extracted in August 2013 and analyzed retrospectively. Fifty-nine Taiwanese patients (median age at extract 60.7 years [range 15.0–86.9]; . = 36 [61%] male) with proven IVS4 (. = 41 [69%]) or classical Fabry mutations (. = 18 [31%]) had available data on cardiac symptoms. Of 55 (93%) patients with reported left ventricular hypertrophy (LVH), mean [SD] age (years) at first symptom was lower in classical Fabry males (30.0 [15.1]; . = 4) than classical Fabry females (49.6 [8.9]; . = 11; . < 0.05), but not in IVS4 females (57.
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,Mitochondrial Complex III Deficiency Caused by , Defects: Report of a Novel Mutation and Review of |
Anna Ardissone,Tiziana Granata,Andrea Legati,Daria Diodato,Laura Melchionda,Eleonora Lamantea,Barbar |
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Abstract
We report about a patient with infantile-onset neurodegenerative disease associated with isolated mitochondrial respiratory chain complex III (cIII) deficiency. The boy, now 13 years old, presented with language regression and ataxia at 4 years of age and then showed a progressive course resulting in the loss of autonomous gait and speaking during the following 2 years. Brain MRI disclosed bilateral striatal necrosis. Sequencing of a panel containing nuclear genes associated with cIII deficiency revealed a previously undescribed homozygous rearrangement (c.782_786delinsGAAAAG) in . gene, which results in a frameshift with premature termination (p.Glu261Glyfs.8). TTC19 protein was absent in patient’s fibroblasts... encodes tetratricopeptide 19, a putative assembly factor for cIII. To date . mutations have been reported only in few cases, invariably associated with cIII deficiency, but presenting heterogeneous clinical phenotypes. We reviewed the genetic, biochemical, clinical and neuroradiological features of . mutant patients described to date.
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书目名称JIMD Reports, Volume 22影响因子(影响力) 
书目名称JIMD Reports, Volume 22影响因子(影响力)学科排名 
书目名称JIMD Reports, Volume 22网络公开度 
书目名称JIMD Reports, Volume 22网络公开度学科排名 
书目名称JIMD Reports, Volume 22被引频次 
书目名称JIMD Reports, Volume 22被引频次学科排名 
书目名称JIMD Reports, Volume 22年度引用 
书目名称JIMD Reports, Volume 22年度引用学科排名 
书目名称JIMD Reports, Volume 22读者反馈 
书目名称JIMD Reports, Volume 22读者反馈学科排名 
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