Renal tubular acidosis (Fanconi syndrome) may be present. Of note, significant elevated levels of ammonia, decreased blood glucose, and organic aciduria are usually not present. [ncbi.nlm.nih.gov]

Elenco Malattie Rare rilevate in Regione Toscana Le malattie rare rilevate in Toscana attraverso il Registro Toscano Malattie Rare sono distinte in 2 tipologie: esenti a livello nazionale (codice di esenzione presente nel DPCM 12/01/2017) non esenti [malattierare.toscana.it]

• Disability

  Please enable JS and disable any ad blocker [cairn.info]

  Attributed to the ultimate failure of the mitochondrial respiratory chain, once it starts, the disease often results in the regression of both mental and motor skills, leading to disability and rapid progression to death. [ncbi.nlm.nih.gov]

Symptomatic treatments including antiseizure medication to control seizures are an important part of treatment. Quality of life can improve significantly if seizures can be controlled without further adverse effects. [ncbi.nlm.nih.gov]

Although patients with mutations in core subunits have a significantly poorer prognosis than patients with mutations in noncore subunits, the variability in prognosis is extremely high.7 With current genetic diagnostic technology, genetic mutations in [ncbi.nlm.nih.gov]

However, some cases do demonstrate involvement of the anterior putamen, dorsal mesencephalon, and dorsal pons.36,68 The etiology of the heterogeneity of MRI findings within and between specific genetic etiologies is not clear. [ncbi.nlm.nih.gov]

This wide range of components of mitochondrial pathophysiology produces a spectrum of disease. [ncbi.nlm.nih.gov]

Physiotherapy and pharmacotherapy for neuromuscular concerns, appropriate feeding methods to prevent malnutrition and aspiration, and aggressive treatment of fever and infections are further important treatment parameters to hopefully improve quality [ncbi.nlm.nih.gov]