Mitochondrial disease

Gene: SLC25A3

Green List (high evidence)

Mitochondrial phosphate carrier deficiency (MPCD) is an autosomal recessive disorder characterized by onset of cardiorespiratory insufficiency soon after birth. Patients usually require intervention in the neonatal period. The disorder may result in death in infancy, although those that survive have stabilization or amelioration of symptoms with age. Most affected individuals have hypotonia, delayed motor development, and exercise intolerance, but cognitive development is normal. Laboratory studies typically show increased serum lactate, although this may not be present. Muscle biopsy shows abnormal mitochondria and lipid accumulation.

At least 3 unrelated individuals reported.

Created: 6 Apr 2022, 11:23 p.m. | Last Modified: 6 Apr 2022, 11:23 p.m.

Panel Version: 0.771

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial phosphate carrier deficiency, MIM# 610773

Publications

• 17273968
• 21763135
• 25681081