A 22-year-old develops progressive sensorimotor neuropathy, pontobulbar weakness, optic atrophy and sensorineural deafness. Acylcarnitines resemble mu...

Question

A 22-year-old develops progressive sensorimotor neuropathy, pontobulbar weakness, optic atrophy and sensorineural deafness. Acylcarnitines resemble multiple acyl-CoA dehydrogenase deficiency. Which treatment should begin while SLC52A2/SLC52A3 testing is pending?

Accepted Answer

High-dose oral riboflavin while molecular confirmation is pending

Answer

High-dose oral biotin while restricting dietary carbohydrate

Answer

Intravenous thiamine followed by a ketogenic dietary regimen

Answer

Oral coenzyme Q10 while restricting long-chain dietary fat

Answer

Oral pyridoxal phosphate while restricting dietary methionine

Renal medicine & Urology — MRCP Part 1 MCQ

A 22-year-old develops progressive sensorimotor neuropathy, pontobulbar weakness, optic atrophy and sensorineural deafness. Acylcarnitines resemble multiple acyl-CoA dehydrogenase deficiency. Which treatment should begin while SLC52A2/SLC52A3 testing is pending?