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Total 33 results found since Jan 2013.

Effective treatment of choreaballism due to an MT ‐CYB variant with haloperidol, tetrabenazine, and antioxidants
Cerebral CT showing bilateral putaminal calcifications of a patient with multisystem mitochondrial disorder due to the variant 15043G  >  A inMT-CYB. Key Clinical MessageHypokinetic and hyperkinetic movement disorders are a common phenotypic feature of mitochondrial disorders. Choreaballism has been reported particularly in patients with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome and in maternally inherited diabetes and deafness syndrome. The pathophysiological basis of movement disorders in mitochondrial disorders is the involvement of the basal ganglia or the midbrain. Haloper...
Source: Clinical Case Reports - June 21, 2023 Category: General Medicine Authors: Josef Finsterer, Ritwik Ghosh Tags: CASE REPORT Source Type: research

Lipid storage myopathy due to late-onset multiple Acyl-CoA dehydrogenase deficiency with novel mutations in ETFDH: A case report
ConclusionOur observations extend the spectrum of ETFDH variants in Chinese the population and reinforce the role of NGS in diagnosis of MADD. Early diagnosis and appropriate treatment of LSM lead to great clinical efficacy and avoid some lethal complications.
Source: Frontiers in Neurology - December 15, 2022 Category: Neurology Source Type: research

082 A rare mimic of inflammatory myopathy
A 37 year-old female presented with 5-weeks of neck pain, proximal weakness and dysphonia. Exami- nation showed facial rash, proximal weakness, areflexia and distal sensory loss. She had a 6-year history of sensory neuropathy, treated functional B12 deficiency and fibromyalgia. Serum showed elevated CK (360U/L) and borderline positive Anti-Ro52. Electrophysiology showed worsening sensory neuropathy and new myopathic features. She deteriorated soon after receiving intravenous corticosteroids and immu- noglobulins. CK increased to 1796 U/L and she developed bulbar failure requiring respiratory support. Muscle biopsy electron...
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 27, 2022 Category: Neurosurgery Authors: Purcaru, E., Carroll, L., Furby, J. Tags: Poster Presentations Source Type: research

Diagnostic Challenges in Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency: Clinical, Morphological, and Genetic Aspects
ConclusionOur data confirmed that clinical features in MADD patients are extremely variable in terms of disease onset and symptoms making diagnosis difficult. Laboratory investigations, such as serum acylcarnitine profile and muscle biopsy evaluation, may strongly address to a correct diagnosis. The favorable response to riboflavin supplementation strengthens the importance of an early diagnosis of these disorders among the spectrum of metabolic myopathies.
Source: Frontiers in Neurology - March 3, 2022 Category: Neurology Source Type: research

Clinical Presentations and Genetic Characteristics of Late-Onset MADD Due to ETFDH Mutations in Five Patients: A Case Series
Conclusions: LO-MADD is caused by ETFDH variants and responds well to riboflavin. Three novel ETFDH pathogenic variants were identified, expanding their spectrum in the Chinese population and facilitating future interpretation and analysis of ETFDH mutations.
Source: Frontiers in Neurology - November 8, 2021 Category: Neurology Source Type: research

“Liver Failure in an Infant of Late-Onset Glutaric Aciduria Type II”: Case Report
We present a five-month-old developmentally normal female child with acute encephalopathy, hypotonia, non-ketotic hypoglycemia, metabolic acidosis, and liver failure, with a history of sibling death of suspected inborn error of metabolism. The blood acyl-carnitine levels in Tandem Mass Spectrometry and urinary organic acid analysis through Gas Chromatography –Mass Spectrometry were unremarkable. The patient initially responded to riboflavin, CoQ, and supportive management but ultimately succumbed to sepsis with shock and multi-organ dysfunction. The clinical exome sequencing reported a homozygous missense variation in ex...
Source: Indian Journal of Clinical Biochemistry - September 27, 2021 Category: Biochemistry Source Type: research

P035  Inflammatory myopathy and metabolic disorders causing myopathies
Conclusion This lady was initially managed as inflammatory myopathy but did not respond to high dose methylprednisolone. There were atypical features including normal inflammatory markers, MRI thighs showing predominantly fatty infiltration and muscle atrophy and the muscle biopsy with abundant lipid accumu lation suggestive of a metabolic disorder. We are awaiting full results of genetic testing. This case is a reminder of the importance of tissue diagnosis and reassessing the initial diagnosis if the clinical picture changes or patients do not respond as expected to treatment.Disclosure M. Malik: None.A. Mason: None....
Source: Rheumatology - April 26, 2021 Category: Rheumatology Source Type: research

Needle EMG, a Jigsaw to Disclose Lipid Storage Myopathy Due to Multiple Acyl-CoA Dehydrogenase Deficiency
Multiple acyl-CoA dehydrogenase deficiency is a rare autosomal recessive inborn error of metabolism. The late-onset multiple acyl-CoA dehydrogenase deficiency is frequently caused by mutations in ETFDH gene. Because of its clinical heterogeneity, diagnosis and treatment of late-onset multiple acyl-CoA dehydrogenase deficiency are often delayed. The authors described a previously healthy 40-yr-old Thai woman presenting with subacute severe weakness of bulbar-limb muscles and elevated serum creatine kinase. The authors emphasized the importance of needle EMG and prompt muscle histopathological evaluation, which rapidly led t...
Source: American Journal of Physical Medicine and Rehabilitation - May 23, 2020 Category: Rehabilitation Tags: Case Reports Source Type: research

Multiple acyl-COA dehydrogenase deficiency in elderly carriers
We describe two patients in their seventies, referred for a nonspecific myopathy, which resulted to manifest carriers ofETFDH gene mutation. Treatment with riboflavin andl-carnitine improved the clinical picture and the biochemical profile. This condition should be included in the differential diagnosis of myopathies even at an old age.
Source: Journal of Neurology - April 26, 2020 Category: Neurology Source Type: research

Skin damage in a patient with lipid storage myopathy with a novel ETFDH mutation responsive to riboflavin
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Source: International Journal of Neuroscience - March 8, 2020 Category: Neuroscience Authors: Hongliang Xu Xin Chen Yajun Lian Shuya Wang Tuo Ji Lu Zhang Shuang Li Source Type: research

Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations
We report a Chinese family of Southern Min origin with ...
Source: BMC Neurology - December 18, 2019 Category: Neurology Authors: Wei Chen, Youqiao Zhang, Yifeng Ni, Shaoyu Cai, Xin Zheng, Frank L. Mastaglia and Jingshan Wu Tags: Case report Source Type: research

Adolescent Hyperuricemia with Lipid Storage Myopathy: A Clinical Study.
CONCLUSIONS If an adolescent hyperuricemia patient has abnormal limb weakness, exercise intolerance, and elevated serum CK values, clinicians need to be highly alert to the possibility of LSM. Early diagnosis and treatment of LSM should improve the clinical symptoms and quality of life and reduce complications. PMID: 31785094 [PubMed - in process]
Source: Medical Science Monitor - December 2, 2019 Category: Research Tags: Med Sci Monit Source Type: research

P.88Lipid storage myopathies due to ETFDH and PNPLA2 mutations: MRI and microRNA role as biomarkers
In lipid storage myopathies (LSM) caused by ETFDH and PNPLA2 mutations we evaluated the expression profile of microRNAs. The abnormal storage of triglycerides (TG) in skeletal muscle can be due to ETFDH mutations in the riboflavin responsive multiple acyl-CoA deficiency (RR-MAD) with secondary carnitine deficiency, and PNPLA2 mutations in neutral lipid storage myopathy (NLSDM). Fat oxidation is impaired in LSM. The main morphological feature is the accumulation of lipid droplets in muscle and other tissues.
Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: C. Angelini, V. Pegoraro, R. Marozzo, S. Missaglia, D. Tavian, D. Tavian Source Type: research

Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
Deficiency of electron transfer flavoprotein dehydrogenase (ETFDH) is associated with multiple acyl-CoA dehydrogenase deficiency (MADD). This disorder is an autosomal recessive lipid storage myopathy (LSM) tha...
Source: Lipids in Health and Disease - November 13, 2018 Category: Lipidology Authors: Sara Missaglia, Daniela Tavian, Laura Moro and Corrado Angelini Tags: Short report Source Type: research

Long-term outcomes of a patient with late-onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutations in ETFDH: A case report
Rationale: Late-onset multiple acyl-coenzyme A dehydrogenase deficiency (MADD) mainly affects the neck extensor muscle group, which has been confirmed by novel mutations in electron-transferring-flavoprotein dehydrogenase (ETFDH). So far, a few cases have been reported with long-term follow-up. Here we report a case of late-onset MADD where the patient was followed up for 8 years during which time he underwent 2 muscle biopsies and 2 pathological examinations and his symptoms were significantly alleviated after appropriate treatments. Patient concerns: In September 2009, a 16-year-old male patient was hospitalized due...
Source: Medicine - November 1, 2018 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research