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Case Reports
. 2019 Dec 21:2019:1598213.
doi: 10.1155/2019/1598213. eCollection 2019.

Myogenic Disease and Metabolic Acidosis: Consider Multiple Acyl-Coenzyme A Dehydrogenase Deficiency

A Dernoncourt  1 , J Bouchereau  2 , C Acquaviva-Bourdain  3 , C Wicker  2 , P De Lonlay  2 , C Gourguechon  4 , H Sevestre  5 , P-E Merle  6 , J Maizel  1 , C Brault  1
Affiliations
Case Reports

Myogenic Disease and Metabolic Acidosis: Consider Multiple Acyl-Coenzyme A Dehydrogenase Deficiency

A Dernoncourt et al. Case Rep Crit Care. .

Abstract

Background: Multiple acyl-coA dehydrogenase deficiency (MADD) is a rare, inherited, autosomal-recessive disorder leading to the accumulation of acylcarnitine of all chain lengths. Acute decompensation with cardiac, respiratory or hepatic failure and metabolic abnormalities may be life-threatening.

Case presentation: A 29-year-old woman presented with severe lactic acidosis associated with intense myalgia and muscle weakness. The clinical examination revealed symmetric upper and lower limb motor impairment (rated at 2 or 3 out of 5 on the Medical Research Council scale) and clear amyotrophy. Laboratory tests had revealed severe rhabdomyolysis, with a serum creatine phosphokinase level of 8,700 IU/L and asymptomatic hypoglycemia in the absence of ketosis. Electromyography revealed myotonic bursts in all four limbs. The absence of myositis-specific autoantibodies ruled out a diagnosis of autoimmune myositis. Finally, Acylcarnitine profile and gas chromatography-mass spectrometry analysis of organic acids led to the diagnosis of MADD. A treatment based on the intravenous infusion of glucose solutes, administration of riboflavin, and supplementation with coenzyme Q10 and carnitine was effective. Lipid consumption was strictly prohibited in the early stages of treatment. The clinical and biochemical parameters rapidly improved and we noticed a complete disappearance of the motor deficit, without sequelae.

Conclusion: A diagnosis of MADD must be considered whenever acute or chronic muscle involvement is associated with metabolic disorders. Acute heart, respiratory or hepatic failure and metabolic abnormalities caused by MADD may be life-threatening, and will require intensive care.

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Conflict of interest statement

All authors declare that they have no conflicts of interest.

Figures

Figure 1
Figure 1
Electromyogram of the right 5th finger. A surface electromyogram, showing myotonic bursts in the abductor of the right 5th finger.
Figure 2
Figure 2
Pathology assessment of a muscle biopsy. (a) Stain:hematein eosin saffron; magnification: ×40. (b) Histochemical analysis of cytochrome oxidase; magnification: ×20. (c) Stain: periodic acid Schiff; magnification: ×20.
Figure 3
Figure 3
Changes in clinical and laboratory parameters during treatment.
Figure 4
Figure 4
Simplified illustration of the mitochondrial respiratory chain. The respiratory chain is an electron transport chain that oxidizes reduced coenzymes (such as NADH) resulting from the degradation of organic compounds. It is composed of four protein complexes (I–IV) located in the inner mitochondrial membrane. The complexes are associated with two cofactors, coenzyme Q10 (Q) and cytochrome (C). This oxidation provides the energy required for proton transfer from the matrix to the mitochondrial intermembrane space. The resulting electrochemical gradient provides the energy needed for ATP synthase to phosphorylate ADP to ATP. The enzymes' electron transfer flavoprotein (ETF) and ETF dehydrogenase (ETFDH) catalyze the transfer of electrons produced by fatty acid oxidation from acyl-coenzyme A dehydrogenase to coenzyme Q10, using flavin adenine dinucleotide (FAD) as a cofactor.
See this image and copyright information in PMC

References

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