CYB5R3 the subsequent disease manifestation have been described. The disease manifests as the accumulation of oxidized Fe+3 in humans. Type I recessive congenital methemoglobinemia (RCM) is characterized by a deficiency of the soluble isoform and manifests as the cyanosis of skin and mucous membranes. In type II, the defect affects both isoforms and thus affects more general tissues such as red blood cells, leukocytes, and all body tissues. This type is associated with mental deficiency and other neurologic symptoms, which may be because the cytochrome b5 system plays a crucial role in the desaturation of fatty acids in the body. One
Adult polyglucosan body disease cases had been reported in the medical literature as of 2016. As of 2016 the largest set of case studies included 50 people; about 70% of them were of Ashkenazic Jewish descent. A person with APBD named Gregory Weiss created a foundation, the Adult Polyglucosan Body Disease Research Foundation, to fund research into the disease and its management. In 2015 the first transgenic mouse that appeared to be a useful model organism for studying APBD was published. Adult polyglucosan body disease Adult polyglucosan body disease (APBD) is an orphan disease and a glycogen storage disorder that is caused by an