Mitochondria and Peroxisome Crosstalk in Peroxisome Biogenesis Disorder 8A Caused by a Rare Variant in PEX16 Gene.

Abstract excerpt

Peroxisome biogenesis disorder 8A is a rare autosomal recessive disorder caused by mutations in the PEX16 gene. We report the clinical, biochemical, and molecular features of a patient harboring the homozygous NM_004813.4: c.526C>T, p.(Arg176*) mutation in PEX16 associated with mitochondrial dysfunction. This newborn presented with microcephaly, encephalopathy, hypotonia, failure to thrive, hepatomegaly, and...

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