Movement disorders (MDs) are a hallmark of HIBCH and ECHS1 deficiencies, with dystonia being the most frequent clinical feature. MDs in this population can present as a variable combination of isolated or combined MDs.
Why this matters
HIBCH deficiency (HIBCHD) and ECHS1 deficiency (ECHS1D) are rare autosomal recessive metabolic diseases, often revealed by neurological symptoms. Literature focusing on MDs in patients with HIBCHD and ECHS1D deficiencies are scarce.
Characterizing MDs in HIBCHD and ECHS1D could improve the management of patients with MD of unclear etiology, by considering metabolic screening in the diagnostic work-up.