متیل مالونیک اسیدمی: تشخیص و یافته های تصویربرداری دراین بیماری نورومتابولیک(مطالعه یک گروه بیماران ایرانی)

کریم زاده, پروانه and جعفری, نرجس and احمدآبادی, فرزاد and جبداری, ساینا (1392) متیل مالونیک اسیدمی: تشخیص و یافته های تصویربرداری دراین بیماری نورومتابولیک(مطالعه یک گروه بیماران ایرانی). Iranian journal of child neurology ــ 7 (3). pp. 63-66. شاپا 1735-4668

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Official URL: http://journals.sbmu.ac.ir/index.php/ijcn/article/...


Methylmalonic Acidemia: Diagnosis and Neuroimaging Findings of This Neurometabolic Disorder (An Iranian Pediatric Case Series)

English Abstract

Objective Methylmalonic acidemia is one of the inborn errors of metabolism resulting in the accumulation of acylcarnitine in blood and increased urinary methylmalonic acid excretion. This disorder can have symptoms, such as neurological and gastrointestinal manifestations, lethargy, and anorexia. Materials & Methods The patients who were diagnosed as methylmalonic acidemia in the Neurology Department of Mofid Children’s Hospital in Tehran, Iran, between 2002 and 2012 were included in our study. The disorder was confirmed by clinical findings, neuroimaging findings, and neurometabolic and genetic assessment in reference laboratory in Germany. We assessed the age, gender, past medical history, developmental status, clinical manifestations, and neuroimaging findings of 20 patients with methylmalonic acidemia. Results Eighty percent of the patients were offspring of consanguineous marriages. Half of the patients had Failure to thrive (FTT) due to anorexia; 85% had history of developmental delay or regression, and 20% had refractory seizure, which all of them were controlled. The patients with methylmalonic acidemia were followed for approximately 5 years and the follow-up showed that the patients with early diagnosis had a more favorable clinical response in growth index, refractory seizure, anorexia, and neurodevelopmental delay. Neuroimaging findings included brain atrophy, basal ganglia involvement (often in putamen), and periventricular leukomalacia. Conclusion According to the results of this study, we suggest that early assessment and diagnosis have an important role in the prevention of disease progression and clinical signs. Keywords: Methylmalonic acidemia; Neurometabolic disorder; Developmental delay; Early detection

Item Type:Article
زبان سند : انگلیسی
نویسنده اول :پروانه کریم زاده
نویسنده مسئول :نرجس جعفری
نویسنده :فرزاد احمدآبادی
نویسنده :ساینا جبداری
Additional Information:Indexed in: PubMed/Pubmed Central , EMBASE , Scopus , ISC(Islamic World Science Citation Center) , CABI(Bibliographic database) , IMEMR (Index Medicus for Eastern Mediterranean Region) , Index Copernicus , EBSCO (CINAHL), Proquest (CSA: In Neuroscience Database) , DOAJ , Google scholar , SID(Scientific Information Database) , Iranmedex , Magiran , IranJournal (RiceSt
Uncontrolled Keywords:متیل مالونیک اسیدمی ، علائم بالینی ، یافته های تصویربرداری ، تشخیص زود هنگام
کلیدواژه ها (انگلیسی):Methylmalonic acidemia; Neurometabolic disorder; Developmental delay; Early detection
Subjects:WD Nutrition Disease and metabolic diseases
WL Nervous system
WS Pediatrics
Divisions:Faculty of Medicine > Department of Pediatrics , Community Medicine
ID Code:5281
Deposited By: Dr Farzad Ahmadabadi
Deposited On:14 Dec 1392 13:02
Last Modified:13 Feb 1394 09:30

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