mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
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.
MONDO:0002254
syndromic disease
is_a
MONDO:0016796
mitochondrial DNA depletion syndrome, encephalomyopathic form
is_a
MTDPS5
related
booth-Haworth-Dilling syndrome
exact
encephalomyopathy
related
mitochondrial DNA depletion syndrome 5
exact
mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
related
mitochondrial DNA depletion syndrome type 5
exact
mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive
related
mitochondrial encephalomyopathy aminoacidopathy
related
mitochondrial encephalomyopathy-aminoacidopathy syndrome
exact
mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
exact
SPCC1620.08