METHEMOGLOBINEMIA TYPE IV

Question 1

What is  METHEMOGLOBINEMIA TYPE IV?

Accepted Answer

rare
autosomal recessive
mutation in the microsomal cytochrome b5 gene (CYB5A)
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%

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Methämoglobinämie, Typ 4

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 250790

Question 4

Which enzymes are involved?

Accepted Answer

Cytochrome b5

Disease	METHEMOGLOBINEMIA TYPE IV
OMIM	250790 OMIM = Online Mendelian Inheritance of Men
Orphanet	621
Protein (UniProt)	Cytochrome b5
Gene locus	18q22.3
ICD	D74.0
Summary	rare autosomal recessive mutation in the microsomal cytochrome b5 gene (CYB5A) 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%
Laboratory findings
Symptoms	cyanosis onset, infancy