Abstract:
:Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder caused by mutations in the gene encoding thymidine phosphorylase and is characterized by external ophthalmoparesis, gastrointestinal dysmotility, leukoencephalopathy, and neuropathy. The availability of new therapeutic options (peritoneal dialysis, allogeneic stem cell transplantation, enzyme replacement) makes it necessary to diagnose the disease early, which is not always achieved due to the difficulty in recognizing this disorder, especially in case of atypical presentation. We describe three MNGIE patients with atypical onset of the disease. In the first patient the main symptoms were long-standing chronic fever, recurrent acute migrant arthritis, and gastrointestinal disorders mimicking autoimmune or inflammatory intestinal diseases; the second patient complained only of exercise intolerance and muscle cramps, and the third patient had a CIDP-like polyneuropathy. This study stresses the insidious heterogeneous clinical onset of some cases of MNGIE, expands the spectrum of the phenotype, and suggests considering MNGIE in the differential diagnosis of enteropathic arthritis, isolated exercise intolerance, and inflammatory polyneuropathies not responsive to the usual treatment. A better understanding of the clinical heterogeneity of MNGIE is necessary in order to diagnose atypical cases and promote early diagnosis, which is now absolutely necessary in view of the new available therapies.
journal_name
J Inherit Metab Disjournal_title
Journal of inherited metabolic diseaseauthors
Filosto M,Scarpelli M,Tonin P,Testi S,Cotelli MS,Rossi M,Salvi A,Grottolo A,Vielmi V,Todeschini A,Fabrizi GM,Padovani A,Tomelleri Gdoi
10.1007/s10545-011-9332-6subject
Has Abstractpub_date
2011-12-01 00:00:00pages
1199-203issue
6eissn
0141-8955issn
1573-2665journal_volume
34pub_type
杂志文章abstract::As more states adopt expanded newborn screening for metabolic disorders, the overall number of false positives increases. False-positive screening results have been associated with increased anxiety and stress in parents of infants who require follow-up testing, even after the infant's good health is confirmed. This a...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章,评审
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更新日期:2006-10-01 00:00:00
abstract::Menkes disease (MNK) is a lethal, X-linked recessive disorder of copper metabolism dominated by neurodegenerative symptoms and connective tissue disturbances. The incidence of MNK in Asia is not known. Most patients die by the age of 3 years if adequate treatment is not carried out. Early parenteral administration of ...
journal_title:Journal of inherited metabolic disease
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journal_title:Journal of inherited metabolic disease
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更新日期:2019-09-01 00:00:00
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journal_title:Journal of inherited metabolic disease
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doi:10.1002/jimd.12297
更新日期:2021-01-01 00:00:00
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journal_title:Journal of inherited metabolic disease
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doi:10.1007/s10545-017-0018-6
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journal_title:Journal of inherited metabolic disease
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journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章,评审
doi:10.1007/BF01797915
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journal_title:Journal of inherited metabolic disease
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journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1023/a:1005363414792
更新日期:1998-02-01 00:00:00
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journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1007/BF00712009
更新日期:1994-01-01 00:00:00
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journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
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更新日期:1996-01-01 00:00:00
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journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1007/BF01805595
更新日期:1984-01-01 00:00:00
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journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1007/s10545-008-0965-z
更新日期:2008-12-01 00:00:00
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journal_title:Journal of inherited metabolic disease
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doi:10.1007/s10545-017-0105-8
更新日期:2018-03-01 00:00:00
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journal_title:Journal of inherited metabolic disease
pub_type: 临床试验,杂志文章
doi:10.1023/b:boli.0000005658.14563.77
更新日期:2003-01-01 00:00:00
abstract::In this review, we describe transcranial electrical stimulation (tES) techniques currently being used in neuroscientific research, including transcranial direct current (tDCS), alternating current (tACS) and random noise (tRNS) stimulation techniques. We explain how these techniques are used and summarise the proposed...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章,评审
doi:10.1007/s10545-018-0181-4
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journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1023/B:BOLI.0000009978.17777.33
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abstract:BACKGROUND:The cobalamin E (cblE) (MTRR, methionine synthase reductase) and cobalamin G (cblG) (MTR, methionine synthase) defects are rare inborn errors of cobalamin metabolism leading to impairment of the remethylation of homocysteine to methionine. METHODS:Information on clinical and laboratory data at initial full ...
journal_title:Journal of inherited metabolic disease
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doi:10.1007/s10545-014-9803-7
更新日期:2015-09-01 00:00:00
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journal_title:Journal of inherited metabolic disease
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journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章,评审
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更新日期:1992-01-01 00:00:00
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journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1007/BF01799685
更新日期:1990-01-01 00:00:00
abstract::Every newborn with unexplained neurological deterioration, ketosis, metabolic acidosis or hypoglycaemia should be suspected of having an inherited error of intermediary metabolism. Many of these conditions can be diagnosed clinically with the aid of simple laboratory investigations. Since a substantial number of these...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1007/BF01799284
更新日期:1989-01-01 00:00:00
abstract::A biomarker is an analyte indicating the presence of a biological process linked to the clinical manifestations and outcome of a particular disease. In the case of lysosomal storage disorders (LSDs), primary and secondary accumulating metabolites or proteins specifically secreted by storage cells are good candidates f...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章,评审
doi:10.1007/s10545-011-9308-6
更新日期:2011-06-01 00:00:00
abstract::Adenosine deaminase (ADA) deficiency was the first known cause of primary immunodeficiency. Over the past 25 years the basis for immune deficiency has largely been established. Now it appears that ADA deficiency may also cause hepatic toxicity, raising new questions about its pathogenesis. The ADA gene has been sequen...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章,评审
doi:10.1023/a:1005300621350
更新日期:1997-06-01 00:00:00
abstract::We report a retrospective electron-microscopical study of liver biopsies and fibroblast cultures of 19 patients with congenital disorders of glycosylation (CDG) of different subtypes. A constant finding in liver biopsies of all CDG-I cases was that of abnormal lysosomal lamellar inclusions in the hepatocytes, which we...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1023/a:1024023429680
更新日期:2003-01-01 00:00:00
abstract::Aldolase B is critical for sugar metabolism, and a catalytic deficiency due to mutations in its gene may result in hereditary fructose intolerance (HFI) syndrome, with hypoglycaemia and severe abdominal symptoms. This report describes two cases of HFI, which were identified by intravenous fructose tolerance test and a...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1023/a:1022043307569
更新日期:2002-11-01 00:00:00
abstract:BACKGROUND:Morphology and function of Fabry cardiomyopathy has been previously studied by echocardiography and cardiac magnetic resonance (CMR). However, the value of electrocardiography (ECG) in relation to these two techniques remains largely unknown. METHODS:One hundred fifty genetically confirmed Fabry patients we...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1007/s10545-012-9540-8
更新日期:2013-09-01 00:00:00
abstract::Expanded programmes of newborn screening permit early diagnosis in time to prevent serious complications. These programmes have begun to detect patients who might otherwise remain asymptomatic. An additional confounding variable is the positive screen that results from maternal rather than neonatal disease. This was t...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1007/s10545-009-1062-7
更新日期:2009-12-01 00:00:00