Regression

Gene: SLC25A42

Green List (high evidence)

Recurrent metabolic crises with variable encephalomyopathic features and neurologic regression (MECREN) is an autosomal recessive metabolic disorder with a highly variable phenotype. Most affected individuals present in the first years of life with episodic lactic acidosis associated with illness or stress, resulting in transient or permanent neurologic dysfunction. Some patients may recover, whereas others show subsequent variable developmental regression of motor and cognitive skills. Other features may include dystonia, hypotonia with inability to sit or walk, seizures, and abnormal signals in the basal ganglia.

Sixteen individuals reported, 14 with the same founder variant, c.871A > G:p.Asn291Asp. Two additional variants reported in another two individuals.
Sources: Expert Review

Created: 6 Apr 2022, 10:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression , MIM#618416

Publications

• 26541337
• 29327420
• 29923093
• 34258143