METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE

Question 1

What is  METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE?

Accepted Answer

rare
autosomal recessive
mutation in the CYB5R3 gene
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, hereditäre; NADH-Cytochrom b5-Reduktase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 250800

Question 4

Which enzymes are involved?

Accepted Answer

NADH-cytochrome b5 reductase 3

Disease	METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE
Synonym	METHEMOGLOBINEMIA, TYPE I; METHEMOGLOBINEMIA, TYPE II
OMIM	250800 OMIM = Online Mendelian Inheritance of Men
Orphanet	621
Protein (UniProt)	NADH-cytochrome b5 reductase 3
ExPASy	1.6.2.2
Gene locus	22q13.2 Detail information to gene locus by the National Center for Biotechnology Information NCBI: Diaphorase (NADH); cytochrome b-5 reductase
ICD	D74.0
Summary	rare autosomal recessive mutation in the CYB5R3 gene 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 dyspnea growth retardation, poor growth headache (severe, recurrent or occipital, migraine) hypertonia, spasticity mental retardation methemoglobinemia microcephaly (<2 SD for age) onset, neonatal opisthotonus polycythemia strabismus