Visit Metagene.de!
Summary
METHEMOGLOBINEMIA TYPE IV
250790
OMIM = Online Medalian Inheritance of Men
18q22.3
rare
autosomal recessive
Type I: most frequent, methemoglobin concentration 10-35%
Type II: is progressive and leads to shortened lifespan, 10% of individuals
Type IV: Methemoglobin concentration 12 to 19%
symptoms
cyanosis
onset, infancy
laboratory finding
Literature
Tchan M,et al.The management of pregnancy in maple syrup urine disease: experience with two patientsJIMD Rep100113-1172013
Sitta A,et al.Neurological damage in MSUD: the role of oxidative stressCell Mol Neurobiol342157-1652014