A genetic mimic of cerebral palsy: Homozygous NFU1 mutation with marked intrafamilial phenotypic variation

Genetic defects in the NFU1, an iron-sulfur cluster scaffold protein coding gene, which is vital in the final stage of assembly for iron sulfur proteins, have been defined as multiple mitochondrial dysfunctions syndrome I. This disorder is a severe autosomal recessive disease with onset in early infancy. It is characterized by disruption of the energy metabolism, resulting in weakness, neurological regression, hyperglycinemia, lactic acidosis, and early death.

Source: Brain and Development - July 31, 2020 Category: Neurology Authors: Tu ğçe Aksu Uzunhan, Nafiye Emel Çakar, Serhat Seyhan, Kürşad Aydin Tags: Case Report Source Type: research