CHIP control degradation of mutant ETF : QO through ubiquitylation in late‐onset multiple acyl‐CoA dehydrogenase deficiency

2021 ◽  
Author(s):  
Xin‐Yi Liu ◽  
Xue‐Jiao Chen ◽  
Miao Zhao ◽  
Zhi‐qiang Wang ◽  
Hai‐zhu Chen ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Late Onset

Newborn screening and molecular features of patients with multiple acyl-CoA dehydrogenase deficiency in Quanzhou, China

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Yiming Lin ◽  
Weifeng Zhang ◽  
Zhixu Chen ◽  
Chunmei Lin ◽  
Weihua Lin ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Genetic Analysis ◽  
Tandem Mass Spectrometry ◽  
Newborn Screening ◽  
Dehydrogenase Deficiency ◽  
Late Onset ◽  
False Negative ◽  
Tandem Mass ◽  
Lipid Storage Myopathy ◽  
Molecular Features

Abstract Objectives Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder of fatty acid, amino acid and choline metabolism. Late-onset MADD is caused by ETFDH mutations and is the most common lipid storage myopathy in China. However, few patients with MADD have been identified through newborn screening (NBS). This study assessed the acylcarnitine profiles and molecular features of patients with MADD identified through NBS. Methods From January 2014 to June 2020, 479,786 newborns screened via tandem mass spectrometry were recruited for this study. Newborns with elevated levels of multiple acylcarnitines were recalled, those who tested positive in the reassessment were referred for genetic analysis. Results Of 479,786 newborns screened, six were diagnosed with MADD. The MADD incidence in the Chinese population was estimated to be 1:79,964. Initial NBS revealed five patients with typical elevations in the levels of multiple acylcarnitines; however, in one patient, acylcarnitine levels were in the normal reference range during recall. Notably, one patient only exhibited a mildly increased isovalerylcarnitine (C5) level at NBS. The patient with an atypical acylcarnitine profile was diagnosed with MADD by targeted gene sequencing. Six distinct ETFDH missense variants were identified, with the most common variant being c.250G>A (p.A84T), with an allelic frequency of 58.35 (7/12). Conclusions These findings revealed that it is easy for patients with MADD to go unidentified, as they may have atypical acylcarnitine profiles at NBS and the recall stage, indicating the value of genetic analysis for confirming suspected inherited metabolic disorders in the NBS program. Therefore, false-negative (FN) results may be reduced by combining tandem mass spectrometry (MS/MS) with genetic testing in NBS for MADD.

scholarly journals Late-onset multiple acyl-CoA dehydrogenase deficiency with breast cancer

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Keechilat Pavithran ◽  
Divya Pachat ◽  
Dehannathparambil Kottarathil Vijaykumar
Keyword(s):  
Dehydrogenase Deficiency ◽  
Late Onset ◽  
Acid Oxidation ◽  
Successful Management ◽  
Carcinoma Of The Breast ◽  
Metabolic Complications ◽  
Case Presentation ◽  
Neonatal Onset ◽  
Gene Mutation Analysis ◽  
Rare Metabolic Disorder

Abstract Background Multiple acyl-CoA dehydrogenase deficiency (MAAD) is a rare metabolic disorder resulting from an abnormality in fatty acid oxidation. There are three types of presentations: neonatal onset with or without congenital anomalies and the late-onset type. There is much clinical heterogeneity in the presentation of late-onset variants; hence, the diagnosis is often delayed or missed. Case presentation Here, we report the successful management of a 41-year-old female with late-onset MAAD due to mutation in the ETFDH gene who presented with carcinoma of the breast. Chemotherapy was challenging because there were no previous reports regarding the treatment of such cases. Conclusion The diagnosis was made based on metabolic workup and gene mutation analysis. Unplanned surgery and chemotherapy can be fatal in these patients due to metabolic complications. With proper precautions and monitoring, the patient tolerated surgery and chemotherapy without any complications.

Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency

Neurology ◽  
2005 ◽  
Vol 64 (12) ◽  
pp. 2142-2144 ◽  
Author(s):  
S. Kulkens ◽  
I. Harting ◽  
S. Sauer ◽  
J. Zschocke ◽  
G. F. Hoffmann ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Late Onset ◽  
Neurologic Disease

scholarly journals Rhabdomyolysis in the Military: Recognizing Late-Onset Very Long-Chain Acyl Co-A Dehydrogenase Deficiency

2006 ◽  
Vol 171 (7) ◽  
pp. 657-658 ◽  
Author(s):  
Jodi D. Hoffman ◽  
Robert D. Steiner ◽  
Lori Paradise ◽  
Carey O. Harding ◽  
Li Ding ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Late Onset ◽  
Chain Acyl ◽  
The Military ◽  
Long Chain

scholarly journals Late-onset multiple acyl-CoA dehydrogenase deficiency mimicking myositis in an elderly patient: a case report

BMC Neurology ◽  
2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Yiming Zheng ◽  
Yawen Zhao ◽  
Wei Zhang ◽  
Zhaoxia Wang ◽  
Yun Yuan
Keyword(s):  
Elderly Patient ◽  
Muscle Weakness ◽  
Dehydrogenase Deficiency ◽  
Late Onset ◽  
Lipid Storage ◽  
Exercise Intolerance ◽  
Lipid Storage Myopathy ◽  
Case Presentation ◽  
Acylcarnitine Profile ◽  
Progressive Weakness

Abstract Background Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare and treatable inherited lipid storage myopathy. Here, we report an elderly patient with MADD mimicking myositis. Case presentation An 80-year-old woman had progressive weakness in her limbs, exercise intolerance, and no muscle pain for 3 months. The patient’s serum creatine kinase level was slightly elevated. The initial diagnosis was myositis. However, muscle biopsy showed many cytoplasmic vacuoles stained with oil red O, indicating the presence of lipid storage myopathy. The plasma acylcarnitine profile showed increased medium-chain and long-chain acylcarnitine species, consistent with the diagnosis of MADD. Riboflavin treatment dramatically improved muscle weakness. Conclusions MADD should be considered when evaluating elderly patients with subacute muscle weakness.

scholarly journals Clinical and muscle magnetic resonance image findings in patients with late-onset multiple acyl-CoA dehydrogenase deficiency

2019 ◽  
Vol 132 (3) ◽  
pp. 275-284 ◽  
Author(s):  
Dao-Jun Hong ◽  
Min Zhu ◽  
Zi-Juan Zhu ◽  
Lu Cong ◽  
Shan-Shan Zhong ◽  
...  
Keyword(s):  
Magnetic Resonance ◽  
Magnetic Resonance Image ◽  
Dehydrogenase Deficiency ◽  
Late Onset

scholarly journals A Case of Late-onset Riboflavin Responsive Multiple acyl-CoA Dehydrogenase Deficiency with Novel Mutations in ETFDH Gene

2012 ◽  
Vol 18 (11) ◽  
pp. 952-954 ◽  
Author(s):  
Zhang-Ning Zhao ◽  
Meng-Xin Bao ◽  
Gao-Ting Ma ◽  
Xiao-Min Liu ◽  
Wen-Juan Xu ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Late Onset ◽  
Novel Mutations
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