Alterations in mitochondrial dynamics (fission, fusion, and movement) are implicated in
many neurodegenerative diseases, from rare genetic disorders such as Charcot-Marie-Tooth …

Objective To define the phenotypic spectrum of isolated sulfite oxidase (ISOD) and molybdenum
cofactor deficiency (MoCD), aiming to promote timely diagnosis and assist in future …

Mucolipidosis IV (MLIV) is an autosomal-recessive disease caused by loss-of-function mutations
in the MCOLN1 gene encoding the non-selective cationic lysosomal channel transient …

Mitofusins (Mfn1 and Mfn2) are outer mitochondrial membrane proteins involved in
regulating mitochondrial dynamics. Mutations in Mfn2 cause Charcot-Marie-Tooth disease (CMT) …

Mucolipidosis type IV (MLIV) is a lysosomal disease caused by mutations in the MCOLN1
gene that encodes the endolysosomal transient receptor potential channel mucolipin-1, or …

Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency are two rare genetic
disorders that are caused by impairment of the mitochondrial enzyme sulfite oxidase. Sulfite …

Mucolipidosis IV (MLIV) is an orphan disease leading to debilitating psychomotor deficits
and vision loss. It is caused by loss-of-function mutations in the MCOLN1 gene that encodes …

Molybdenum cofactor deficiency (MoCD) is an autosomal recessive disorder belonging to the
large family of inborn errors in metabolism. Patients typically present with encephalopathy …

Mucolipidosis type IV (MLIV; OMIM 252,650) is an autosomal recessive lysosomal disorder
caused by mutations in MCOLN1. MLIV causes psychomotor impairment and progressive …

Background and Objectives Mucolipidosis type IV (MLIV) is an ultra-rare lysosomal disorder
initially described as a static neurodevelopmental condition. However, patient caregivers …