has material basis in germline mutation in SUCLG1 lactic acidosis mitochondrial DNA depletion syndrome 9 https://rarediseases.info.nih.gov/diseases/3163/lactic-acidosis-congenital-infantile https://www.malacards.org/card/mitochondrial_dna_depletion_syndrome_9_encephalomyopathic_type_with_methylmalonic_aciduria lactic acidosis congenital infantile Orphanet:17 DOID:0080128 mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) SUCLG1 mitochondrial DNA depletion syndrome UMLS:C3151476 lactic acidosis, fatal infantile succinate-CoA ligase deficiency MEDGEN:462826 mitochondrial DNA depletion syndrome caused by mutation in SUCLG1 Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated. GARD:0003163 MTDPS9 OMIM:245400 MESH:C538134 MESH:C566885 MONDO:0009504 mitochondrial DNA depletion syndrome 9 SCTID:715338007 mitochondrial DNA depletion syndrome type 9 mitochondrial DNA depletion syndrome, encephalomyopathic form mitochondrial DNA depletion syndrome