Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency.

Kristin ØrstavikKjell Arne ArntzenPer MathisenPaul Hoff BackeTrine TangeraasMagnhild RasmussenErle KristensenMarijke Van GhelueChristoffer JonsrudYngve Thomas Bliksrud

Published in: JIMD reports (2022)

Axonal neuropathy and recurrent muscular weakness without concomitant rhabdomyolysis may be due to MTP deficiency.

Keyphrases

acute kidney injury
replacement therapy
oxidative stress
spinal cord injury
copy number
protein protein
amino acid
optic nerve
optical coherence tomography