Short-Chain Acyl-CoA Dehydrogenase Deficiency Associated with a Lipid-Storage Myopathy and Secondary Carnitine Deficiency

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.

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Neonatal Screening on Tandem Mass Spectrometry as a Powerful Tool for the Reassessment of the Prevalence of Underestimated Diseases in Newborns and Their Family Members: A Focus on Short Chain Acyl-CoA Dehydrogenase Deficiency

International Journal of Neonatal Screening ◽

10.3390/ijns6030058 ◽

2020 ◽

Vol 6 (3) ◽

pp. 58

Author(s):

MariaAnna Messina ◽

Alessia Arena ◽

Agata Fiumara ◽

Riccardo Iacobacci ◽

Concetta Meli ◽

...

Keyword(s):

Mass Spectrometry ◽

Tandem Mass Spectrometry ◽

Newborn Screening ◽

Dehydrogenase Deficiency ◽

Family Members ◽

Clinical Manifestations ◽

Vitamin B12 Deficiency ◽

Short Chain ◽

Tandem Mass ◽

Chain Acyl

Early detection of disabling diseases, prior to clinical manifestations, is the primary goal of newborn screening (NS). Indeed, the required number of core and secondary conditions selected for screening panels is increasing in many countries. Furthermore, newborn screening can lead to diagnosis of maternal diseases such as vitamin B12 deficiency or 3-MethylcrotonylCoA-carboxylase deficiency (3MCC). NS became mandatory in Sicily in December 2017. Here we report NS data collected between December 2017 and April 2020. Our results show that tandem mass spectrometry is a powerful tool for discovery of underestimated disease in newborns and their family members. Our panel included short chain acyl-CoA dehydrogenase deficiency (SCADD). Here, we report that results of our investigation led to reassessment of SCADD prevalence in our population. The infant and adult patients diagnosed in our study had previously not shown overt symptoms.

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Lessons Learned from The Mouse Model of Short-Chain Acyl-CoA Dehydrogenase Deficiency

Current Views of Fatty Acid Oxidation and Ketogenesis - Advances in Experimental Medicine and Biology ◽

10.1007/0-306-46818-2_46 ◽

2006 ◽

pp. 395-402 ◽

Cited By ~ 2

Author(s):

Philip A. Wood ◽

C. Lisa Kelly-Kurtz ◽

Myron E. Hinsdale ◽

Doug A. Hamm ◽

William J. Rhead

Keyword(s):

Mouse Model ◽

Dehydrogenase Deficiency ◽

Lessons Learned ◽

Short Chain ◽

Chain Acyl

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Lipid Storage Myopathy in Multiple Acyl-CoA Dehydrogenase Deficiency: An Adult Case

European Neurology ◽

10.1159/000116817 ◽

1992 ◽

Vol 32 (3) ◽

pp. 170-176 ◽

Cited By ~ 16

Author(s):

T. Mongini ◽

C. Doriguzzi ◽

L. Palmucci ◽

A. De Francesco ◽

L. Bet ◽

...

Keyword(s):

Dehydrogenase Deficiency ◽

Lipid Storage ◽

Adult Case ◽

Lipid Storage Myopathy

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High Prevalence of Short-Chain Acyl-CoA Dehydrogenase Deficiency in the Netherlands, but No Association with Epilepsy of Unknown Origin in Childhood

Neuropediatrics ◽

10.1055/s-0031-1275342 ◽

2011 ◽

Vol 42 (01) ◽

pp. 13-17 ◽

Cited By ~ 3

Author(s):

B. T. van Maldegem ◽

S. F. Kloosterman ◽

W. J. Janssen ◽

P. B. Augustijn ◽

J. H. van der Lee ◽

...

Keyword(s):

The Netherlands ◽

Dehydrogenase Deficiency ◽

Unknown Origin ◽

Short Chain ◽

High Prevalence ◽

Chain Acyl

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A Rare Case of Short-Chain Acyl-COA Dehydrogenase Deficiency: The Apparent Rarity of the Disorder Results in Under Diagnosis

Indian Journal of Clinical Biochemistry ◽

10.1007/s12291-011-0139-x ◽

2011 ◽

Vol 26 (3) ◽

pp. 312-315 ◽

Cited By ~ 2

Author(s):

G. Shilpa Reddy ◽

M. Sujatha

Keyword(s):

Rare Case ◽

Dehydrogenase Deficiency ◽

Short Chain ◽

Chain Acyl

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Broadening the Picture of Short-Chain Acyl-CoA Dehydrogenase Deficiency: A Case Report with Microcephaly, Leukoencephalopathy, and Characteristic Magnetic Resonance Spectroscopic Findings

Journal of Pediatric Neurology ◽

10.1055/s-0037-1607997 ◽

2017 ◽

Vol 16 (04) ◽

pp. 243-247

Author(s):

Maria Papadopoulou ◽

Iokasti Koutsampasopoulou ◽

Despoina Tramma ◽

Athanassios Evangeliou ◽

Kyriaki Papadopoulou-Legbelou

Keyword(s):

Dehydrogenase Deficiency ◽

Short Chain ◽

Inborn Errors ◽

Metabolism Disorder ◽

Asymptomatic Patients ◽

Mitochondrial Fatty Acid ◽

Chain Acyl ◽

Brain Energy ◽

Abnormal Brain

AbstractShort-chain acyl-CoA dehydrogenase deficiency (SCADD) is a mitochondrial fatty acid metabolism disorder, which results in the accumulation of butyrylcarnitine and ethylmalonic acid in blood and urine. Evidence of genotype/phenotype correlation and neuroimaging characteristics is limited compared with other inborn errors of metabolism. We report a male patient with SCADD who initially presented with seizures, metabolic acidosis, microcephaly, and developmental delay with gradual amelioration of most symptoms. MRI/MRS revealed extended multifocal leukoencephalopathy, disturbed myelination, and abnormal brain energy metabolism with low choline/creatine ratio, which indicate the need for MRI/MRS follow-up even for asymptomatic patients with SCADD.

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