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Methemoglobin reductase deficiency

MedGen UID:
501116
•Concept ID:
C0472786
•
Disease or Syndrome
Synonyms: NADPH-DEPENDENT METHEMOGLOBIN REDUCTASE DEFICIENCY; TPNH-METHEMOGLOBIN REDUCTASE DEFICIENCY
 
Monarch Initiative: MONDO:0009604
OMIM®: 250700

Definition

Less than the necessary amount of the enzyme that converts methemoglobin into hemoglobin. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Diagnosis

Congenital cyanosis due to methemoglobin reductase deficiency: first reported Tunisian case.
Hafsia R, Meddeb B, Mtimet B, Hafsia A, Galactéros F, Kaplan JC, Boussen M
Nouv Rev Fr Hematol (1978) 1989;31(5):371-3. PMID: 2587207
Methemoglobinemia induced by local anesthetics.
Olson ML, McEvoy GK
Am J Hosp Pharm 1981 Jan;38(1):89-93. PMID: 6971056
Rapid method for detection of erythrocyte NADH-methemoglobin reductase deficiency.
Rogers LE
Am J Clin Pathol 1972 Feb;57(2):186-7. doi: 10.1093/ajcp/57.2.186. PMID: 4333282
Congenital methemoglobinemia methemoglobin reductase deficiency.
Koepke JA
Ann Clin Lab Sci (1971) 1971 Nov-Dec;1(3):222-6. PMID: 5154970

Therapy

Acquired methemoglobinemia from multiple oxidants.
Conroy JM, Baker JD 3rd, Martin WJ, Bailey MK, Dorman BH
South Med J 1993 Oct;86(10):1156-9. doi: 10.1097/00007611-199310000-00016. PMID: 8211336
Methemoglobinemia as a complication of 20% benzocaine spray for endoscopy.
Collins JF
Gastroenterology 1990 Jan;98(1):211-3. doi: 10.1016/0016-5085(90)91312-t. PMID: 2293580
Methemoglobinemia induced by local anesthetics.
Olson ML, McEvoy GK
Am J Hosp Pharm 1981 Jan;38(1):89-93. PMID: 6971056
Dapsone-induced methemoglobinemia and hemolysis in the presence of familial hemoglobinopathy Hasharon and familial methemoglobin reductase deficiency.
Ganer A, Knobel B, Fryd CH, Rachmilewitz EA
Isr J Med Sci 1981 Aug;17(8):703-4. PMID: 6765904
Congenital methemoglobinemia due to DPNH-methemoglobin reductase deficiency: another inherited defect of red blood cell metabolism found in Thailand.
Panich V, Na-Nakorn S, Kruatrachue M
J Med Assoc Thai 1970 May;53(5):322-36. PMID: 5505653

Prognosis

Methemoglobin reductase deficiency: novel mutation is associated with a disease phenotype of intermediate severity.
Percy MJ, Barnes C, Crighton G, Leventer RJ, Wynn R, Lappin TR
J Pediatr Hematol Oncol 2012 Aug;34(6):457-60. doi: 10.1097/MPH.0b013e318257a492. PMID: 22627575

Clinical prediction guides

Methemoglobin reductase deficiency: novel mutation is associated with a disease phenotype of intermediate severity.
Percy MJ, Barnes C, Crighton G, Leventer RJ, Wynn R, Lappin TR
J Pediatr Hematol Oncol 2012 Aug;34(6):457-60. doi: 10.1097/MPH.0b013e318257a492. PMID: 22627575
Hb Chile [beta28(B10)Leu-->Met]: an unstable hemoglobin associated with chronic methemoglobinemia and sulfonamide or methylene blue-induced hemolytic anemia.
Hojas-Bernal R, McNab-Martin P, Fairbanks VF, Holmes MW, Hoyer JD, McCormick DJ, Kubik KS
Hemoglobin 1999 May;23(2):125-34. doi: 10.3109/03630269908996157. PMID: 10335980

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