Alpers-Huttenlocher syndrome is one of the most severe of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. Alpers-Huttenlocher syndrome typically becomes apparent in children between ages 2 and 4. People with this condition usually have three characteristic features: recurrent seizures that do not improve with treatment (intractable epilepsy), loss of mental and movement abilities (psychomotor regression), and liver disease.
Alpers-Huttenlocher syndrome is caused by mutations in the POLG gene. This gene provides instructions for making one part, the alpha subunit, of a protein called polymerase gamma (pol γ). Pol γ functions in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells can use. Mitochondria each contain a small amount of DNA, known as mitochondrial DNA (mtDNA), which is essential for the normal function of these structures. Pol γ "reads" sequences of mtDNA and uses them as templates to produce new copies of mtDNA in a process called DNA replication.
The prevalence of Alpers-Huttenlocher syndrome is approximately 1 in 100,000 individuals.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Katsuhisa Masaki is in Fukuoka, Japan. Masaki is rated as an Elite expert by MediFind in the treatment of Alpers-Huttenlocher Syndrome. They are also highly rated in 9 other conditions, according to our data. Their top areas of expertise are Tumefactive Multiple Sclerosis, Alpers-Huttenlocher Syndrome, Pelizaeus-Merzbacher Disease, and Multiple Sclerosis.
Todd Hardy is in Sydney, Australia. Hardy is rated as an Elite expert by MediFind in the treatment of Alpers-Huttenlocher Syndrome. He is also highly rated in 8 other conditions, according to our data. His top areas of expertise are Tumefactive Multiple Sclerosis, Alpers-Huttenlocher Syndrome, Susac Syndrome, and Pelizaeus-Merzbacher Disease.
Jun-ichi Kira is in Fukuoka, Japan. Kira is rated as a Distinguished expert by MediFind in the treatment of Alpers-Huttenlocher Syndrome. He is also highly rated in 32 other conditions, according to our data. His top areas of expertise are Multiple Sclerosis, Tumefactive Multiple Sclerosis, Transverse Myelitis, and Optic Neuritis.
Published Date:updated Last, June
Published By: National Institutes of Health