/mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

Rare Disease

MONDO:0012791

Also Known As

booth-Haworth-Dilling syndromemitochondrial DNA depletion syndrome 5mitochondrial DNA depletion syndrome type 5mitochondrial encephalomyopathy-aminoacidopathy syndromemtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduriaMTDPS5encephalomyopathymitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)mitochondrial DNA depletion syndrome, encephalomyopathic form, with or without methylmalonic aciduria, autosomal recessive, Sucla2-relatedmitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessivemitochondrial encephalomyopathy aminoacidopathy

Definition

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.