Research focus has changed.

This is a natural history study of Alpers Huttenlocher Syndrome. Patients will be followed over time to assess clinical symptoms for the purpose of expanding knowledge of this disorder in the medical community.

The study team will conduct outpatient visits to the medical center on a 6 month basis, or as patients are able. The patients or their caregivers will complete medical and symptom questionnaires.

Inclusion Criteria:

• All individuals of any age with confirmed Alpers Huttenlocher Syndrome (AHS) or siblings of confirmed AHS patients are eligible to participate. AHS requires the presence of polymerase gamma 1 (POLG) pathological mutations, either homozygous or compound heterozygote mutations, and the presence of epilepsy and either, developmental regression or hepatopathy. If POLG mutations are not demonstrated, AHS requires the presence of refractory seizures, developmental regression, and hepatopathy as well as two or more other clinical and laboratory findings including elevated cerebrospinal fluid (CSF) protein, neuroimaging showing lactate peaks, reduced N-acetyl aspartate with hyperintensities on T2/FLAIR in the thalamus and posterior head regions, optic atrophy/cortical blindness, quantitative mtDNA reduction (>30% ) in muscle and/or liver, non-specific electron transport chain (ETC) enzyme deficiencies.
• All patients must agree to participate in the North American Mitochondrial Disease Consortium (NAMDC) Clinical Registry

Exclusion Criteria:

• Patient does not have confirmed AHS and is not the sibling of a patient with confirmed AHS
• Not willing to participate in the NAMDC clinical Registry

patients with Alpers Huttenlocher Syndrome (AHS) and their siblings

This study is a sub project under the North American Mitochondrial Disease Consortium. The de-identified data can be shared if investigators have Institutional Review Board (IRB) approval for a project that might include data from this study and if the NAMDC administration approves of the project