Introduction: Iron Sulphur Cluster (ISC) biogenesis is a vital cellular process in the mitochondria. It is required to produce various ISC-containing proteins, which are present in the nucleus, mitochondria, and cytosol. ISC protiens are responsible for essential functions such as glycine clevage and the formation of lipoic acid. ISCA2 encodes an A-type ISC protein involved in the assembly of mitochondrial iron-sulfur (4Fe-4S) which is important for electron transfer and mitochondrial function.

ISCA2 related Mitochondrial Disorders (IRMD) is a severe disorder of sytemic energy metabolism, characterized by weakness, respiratory failure, lack of neurological development, lactic acidosis, hyperglycenemia and early death. ISCA2 gene is located on Chromosome 14q24.3 and has autosomal recessive inheritance.

Objective: Case report of a 13 months old boy with IRMD.

Discussion: IRMD presents with infantile onset triad of progressive neurodevelopmental regression, nystagmus and optic atrophy. High cerebrospinal fluid lactate and glycine levels and MRI brain with diffuse, abnormal white matter signal in the cerebrum, cerebellum, brain stem and spinal cord along with elevated glycine and lactate peaks on MR spectroscopy was seen in all reported patients. IRMD is caused by pathogenic variant in ISCA2 gene with replacement of glycine with serine at 77th position. It should be considered in infantile onset leucodystrophy.

Conclusion: IRMD is a rapidly progressive condition with death usually in first two years of life. Further studies are warrentd to undersytand the role of ISCA2 gene, effect of its muation and any further treatment stratergies.