Mitochondrial disorders (MIDs) due to respiratory-chain defects or nonrespiratory chain
defects are usually multisystem conditions [mitochondrial multiorgan disorder syndrome …

Purpose: Polymerase gamma (POLG) is the sole enzyme in the replication of mitochondrial
DNA (mtDNA). Numerous mutations in the POLG1 gene have been detected recently in …

Alpers syndrome was not clearly defined until the link between brain and liver disease was
described. Alpers syndrome can now be clearly established as a disorder of oxidative …

Advances in anti-retroviral therapy (ART) has led to improved survival of patients infected
with the human immunodeficiency virus (HIV). ART for HIV patients is composed of a …

Alpers' syndrome is an early‐onset neurodegenerative disorder often caused by biallelic
pathogenic variants in the gene encoding the catalytic subunit of polymerase‐gamma …

BACKGROUND: Alpers syndrome is one of the most common phenotypes of mitochondrial
disorders in early childhood and has been associated with pathogenic mutations in POLG1 …

Hepatocyte injury and necrosis from many causes may result in pediatric liver disease.
Influenced by other cell types in the liver, by its unique vascular arrangements, by lobular …

Mitochondrial dysfunction of the energy generating system was suggested in two infants with
progressive infantile poliodystrophy characterised by hypotonia, refractory epilepsy, visual …

Alpers' syndrome is an early inceptive neurodegenerative disorder with a poor prognosis,
characterized by developmental regression, intractable epilepsy, and hepatic dysfunction …

Alpers-Huttenlocher syndrome (AHS) is a rare mitochondrial disorder of childhood onset that
is characterized by progressive encephalopathy and hepatopathy. MRI studies are rare and …