Mitochondrial disease

Gene: NAXD

Green List (high evidence)

Seven unrelated cases, episodes of fever/infection prior to deterioration reported. Variable phenotype: one patient reported with neurodevelopmental disorder, autism spectrum disorder and a muscular-dystrophy-like myopathy; another with progressive encephalopathy with brain oedema. Patient cells and muscle biopsies also showed impaired mitochondrial function, higher sensitivity to metabolic stress, and decreased mitochondrial reactive oxygen species production. In vitro functional assays also conducted.

Created: 15 Sep 2020, 10:34 p.m. | Last Modified: 15 Sep 2020, 10:34 p.m.

Panel Version: 0.4460

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321

Publications

• 30576410
• 31755961
• 32462209

Green List (high evidence)

Six unrelated cases. Patient cells and muscle biopsies also showed impaired mitochondrial function, higher sensitivity to metabolic stress, and decreased mitochondrial reactive oxygen species production. In vitro functional assays also conducted.
Sources: NHS GMS

Created: 22 Mar 2020, 7:08 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321

Publications

• 30576410