Spinal Cord Involvement in Patients with Adult-Onset Multiple Acyl-CoA Dehydrogenase Deficiency

Area of Science:

• Biochemistry
• Genetics
• Neurology

Background:

• Riboflavin responsive multiple acyl-CoA dehydrogenase deficiency (RR-MADD) is an inherited metabolic disorder.
• Adult-onset RR-MADD presents with a heterogeneous phenotypic spectrum.

Purpose of the Study:

• To describe three adult-onset RR-MADD patients with muscle weakness and spinal cord involvement.
• To expand the understanding of the neurological manifestations in adult-onset RR-MADD.

Main Methods:

• Clinical case series of three patients with adult-onset RR-MADD.
• Biochemical analysis (acylcarnitine, urinary organic acids).
• Genetic analysis (ETFDH mutations).
• Neuroimaging (spinal cord MRI, muscle MRI).

Main Results:

• Patients presented with limb weakness, dyspnea, and sensory level changes.
• Biochemical tests showed elevated acylcarnitine and urinary organic acids.
• Muscle biopsies revealed lipid vacuoles and COX-negative fibers.
• Genetic analysis identified ETFDH mutations.
• MRI confirmed fatty infiltration in muscles and excluded spinal cord structural lesions.
• Short-term riboflavin improved muscle weakness; long-term riboflavin, CoQ10, and vitamin B12 improved spinal cord involvement.

Conclusions:

• Spinal cord involvement is a potential neurological manifestation of adult-onset RR-MADD.
• This expands the known neurological spectrum of this disorder.
• Treatment with riboflavin, coenzyme Q10, and vitamin B12 shows efficacy in managing both muscle and spinal cord symptoms.