| 释义 |
myocerebrohepatopathy spectrum myocerebrohepatopathy spectrum An autosomal recessive condition that was once thought to be a distinct clinical entity, which is now recognised as part of the polymerase-gamma (POLG)-related disorder spectrum. MCHS presents from early infancy to age three with developmental delay or dementia, lactic acidosis, myopathy and failure to thrive, often accompanied by liver failure, renal tubular acidosis, pancreatitis, cyclic vomiting and hearing loss. |