Prenatal diagnosis of congenital enzymopenic methaemoglobinaemia with mental retardation due to generalized cytochrome b5 reductase deficiency: First report of two cases

1981 ◽  
Vol 1 (1) ◽  
pp. 17-24 ◽  
Author(s):  
C. Junien ◽  
A. Leroux ◽  
D. Lostanlen ◽  
A. Reghis ◽  
J. Boue ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Prenatal Diagnosis ◽  
Cytochrome B5 ◽  
First Report ◽  
Reductase Deficiency ◽  
Cytochrome B5 Reductase

scholarly journals Long-term Treatment with Methylene Blue in a Dog with Hereditary Methemoglobinemia Caused by Cytochrome b5 Reductase Deficiency

2017 ◽  
Vol 31 (6) ◽  
pp. 1860-1865 ◽  
Author(s):  
J.A. Jaffey ◽  
M.R. Harmon ◽  
N.A. Villani ◽  
E.K. Creighton ◽  
G.S. Johnson ◽  
...  
Keyword(s):  
Methylene Blue ◽  
Cytochrome B5 ◽  
Term Treatment ◽  
Reductase Deficiency ◽  
Cytochrome B5 Reductase ◽  
Long Term Treatment

scholarly journals Hereditary methemoglobinemia due to cytochrome b5 reductase deficiency in blood cells without associated neurologic and mental disorders

Blood ◽  
1985 ◽  
Vol 66 (6) ◽  
pp. 1288-1291 ◽  
Author(s):  
K Tanishima ◽  
K Tanimoto ◽  
A Tomoda ◽  
K Mawatari ◽  
S Matsukawa ◽  
...  
Keyword(s):  
Mental Disorders ◽  
Normal Control ◽  
Enzyme Activities ◽  
Blood Cells ◽  
Cytochrome B5 ◽  
Severe Form ◽  
Reductase Deficiency ◽  
Cytochrome B5 Reductase ◽  
Familial Study ◽  
Generalized Type

Abstract Following the observation of two fraternal patients without neurologic symptoms, but with hereditary methemoglobinemia due to cytochrome b5 reductase deficiency in erythrocytic and nonerythrocytic cells, a familial study of their paternal and maternal relatives was undertaken. Ferrihemoglobin reductase activities in erythrocytes from the two patients were found to be impaired, and cytochrome b5 reductase activities in platelets and leukocytes were essentially absent. Any deficiencies of the enzyme activities seemed not to be found in nonhematopoietic cells. The enzyme activities in blood cells derived from the parents and some of their paternal and maternal family members showed levels intermediate between those of the patients and those of the normal control, which seemed to be heterozygous. The present cases did not belong to either the classic erythrocytic or the generalized type, and their enzyme deficiency was found rather to be restricted to their blood cells and not associated with neurologic and mental disorders. A necessity of diagnosis by tissues other than blood cells is discussed for a severe form of generalized-type hereditary methemoglobinemia with associated neurologic and mental disorders.

scholarly journals Hereditary methemoglobinemia due to cytochrome b5 reductase deficiency in blood cells without associated neurologic and mental disorders

Blood ◽  
1985 ◽  
Vol 66 (6) ◽  
pp. 1288-1291
Author(s):  
K Tanishima ◽  
K Tanimoto ◽  
A Tomoda ◽  
K Mawatari ◽  
S Matsukawa ◽  
...  
Keyword(s):  
Mental Disorders ◽  
Normal Control ◽  
Enzyme Activities ◽  
Blood Cells ◽  
Cytochrome B5 ◽  
Severe Form ◽  
Reductase Deficiency ◽  
Cytochrome B5 Reductase ◽  
Familial Study ◽  
Generalized Type

Following the observation of two fraternal patients without neurologic symptoms, but with hereditary methemoglobinemia due to cytochrome b5 reductase deficiency in erythrocytic and nonerythrocytic cells, a familial study of their paternal and maternal relatives was undertaken. Ferrihemoglobin reductase activities in erythrocytes from the two patients were found to be impaired, and cytochrome b5 reductase activities in platelets and leukocytes were essentially absent. Any deficiencies of the enzyme activities seemed not to be found in nonhematopoietic cells. The enzyme activities in blood cells derived from the parents and some of their paternal and maternal family members showed levels intermediate between those of the patients and those of the normal control, which seemed to be heterozygous. The present cases did not belong to either the classic erythrocytic or the generalized type, and their enzyme deficiency was found rather to be restricted to their blood cells and not associated with neurologic and mental disorders. A necessity of diagnosis by tissues other than blood cells is discussed for a severe form of generalized-type hereditary methemoglobinemia with associated neurologic and mental disorders.

scholarly journals Methemoglobin Reductase (Cytochrome b5 Reductase) Deficiency in Congenital Methemoglobinemia

Blood ◽  
1974 ◽  
Vol 44 (6) ◽  
pp. 879-884 ◽  
Author(s):  
Takeshi Kitao ◽  
Yoshiki Sugita ◽  
Yoshimasa Yoneyama ◽  
Kenichi Hattori
Keyword(s):  
Reductase Activity ◽  
Cytochrome B5 ◽  
Electrophoretic Pattern ◽  
Heat Stability ◽  
Red Cells ◽  
Reductase Deficiency ◽  
Cytochrome B5 Reductase ◽  
Diaphorase Activity ◽  
Enzymatic Reduction ◽  
Normal Enzyme

Abstract Two NADH diaphorases, diaphorase I and II, were isolated from normal red cells and congenital methemoglobinemic red cells by CM-cellulose and DE 32 column chromatography. For methemoglobinemic sample, activities of diaphorase I and diaphorase II were 80% and less than 5% of those for the normal red cells, respectively. Only diaphorase II showed cytochrome b5 reductase activity. The cytochrome b5 reductase deficiency seems to manifest methemoglobinemia through the decrease in the enzymatic reduction of cytochrome b5 and subsequent nonenzymatic reduction of methemoglobin by the reduced cytochrome b5. The methemoglobinemic diaphorase II was found similar to the normal enzyme with respect to Kms for the dye and NADH, heat stability, effect of pH, and electrophoretic pattern. The ratio of the diaphorase activity to the cytochrome b5 reductase activity was the same for both enzymes. Although the production of an abnormal enzyme molecule can not be excluded, it is possible that in this case the rate of enzyme formation is decreased.

Sign in / Sign up

Export Citation Format

Share Document