has material basis in germline mutation in SUCLA2 syndromic disease mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria https://rarediseases.info.nih.gov/diseases/3681/encephalomyopathy https://www.malacards.org/card/mitochondrial_dna_depletion_syndrome_5_encephalomyopathic_with_methylmalonic_aciduria mitochondrial encephalomyopathy aminoacidopathy Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterized by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA. MEDGEN:1876465 DOID:0080124 Orphanet:1933 GARD:0003681 MTDPS5 mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) MONDO:0012791 encephalomyopathy OMIM:612073 mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive UMLS:C5980207 mitochondrial encephalomyopathy-aminoacidopathy syndrome MESH:C567624 mitochondrial DNA depletion syndrome type 5 mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria booth-Haworth-Dilling syndrome mitochondrial DNA depletion syndrome 5 mitochondrial DNA depletion syndrome, encephalomyopathic form