Mitochondrial disease

Gene: BOLA3

Green List (high evidence)

Multiple mitochondrial dysfunctions syndrome-2 (MMDS2) with hyperglycinemia is a severe autosomal recessive disorder characterized by developmental regression in infancy. Affected children have an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement. Additional more variable features include optic atrophy, cardiomyopathy, and leukodystrophy. Laboratory studies show increased serum glycine and lactate.

At least 3 unrelated families reported.

Created: 7 Dec 2021, 9:40 a.m. | Last Modified: 7 Dec 2021, 9:40 a.m.

Panel Version: 0.10166

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299

Publications

• 30302924
• 29654549
• 30302924