A Syndrome of Methylmalonic Aciduria, Homocystinuria, Megaloblastic Anemia and Neurologic Abnormalities in a Vitamin B12-Deficient Breast-Fed Infant of a Strict Vegetarian

1978 ◽  
Vol 299 (7) ◽  
pp. 317-323 ◽  
Author(s):  
Marilyn C. Higginbottom ◽  
Lawrence Sweetman ◽  
William L. Nyhan
Keyword(s):  
Vitamin B12 ◽  
Megaloblastic Anemia ◽  
Methylmalonic Aciduria ◽  
Breast Fed

scholarly journals Vitamin B12-responsive neonatal megaloblastic anemia and homocystinuria with associated reduced methionine synthase activity

Blood ◽  
1987 ◽  
Vol 69 (4) ◽  
pp. 1128-1133 ◽  
Author(s):  
LJ Hallam ◽  
M Sawyer ◽  
AC Clark ◽  
MB Van der Weyden
Keyword(s):  
Vitamin B12 ◽  
Developmental Delay ◽  
Genetic Heterogeneity ◽  
Megaloblastic Anemia ◽  
Methylmalonic Aciduria ◽  
Methionine Synthase ◽  
Cultured Fibroblasts ◽  
Neurologic Recovery ◽  
Neurologic Development ◽  
Growth Requirement

Abstract We present findings on an infant with neonatal megaloblastic anemia, homocystinuria, and neurologic dysfunction that included developmental delay and tonic seizures. There was no methylmalonic aciduria. Cyanocobalamin therapy was accompanied by complete hematologic and neurologic recovery, diminished homocystine excretion, and subsequently normal neurologic development. Cultured fibroblasts and lymphoblasts showed a reduced methionine synthase activity and a growth requirement for methionine. Cobalamin incorporation by the patient's lymphoblasts was normal, but the proportion of cellular methylcobalamin in the patient's lymphoblasts and fibroblasts were markedly reduced and that of adenosylcobalamin normal. The reduced methionine synthase activity was independent of assay reducing (thiol) conditions, but normal levels of activity accompanied culture of the patient's lymphoblasts in medium with markedly increased cobalamin concentration. The characteristics of the reduced methionine synthase of our patient differ significantly from that of the previously described infant with cobalamin E disease and suggest that genetic heterogeneity may characterize this mutation.

A Breast-fed Newborn With Megaloblastic Anemia-treated With the Vitamin B12 Supplementation of the Mother

2009 ◽  
Vol 31 (10) ◽  
pp. 763-765 ◽  
Author(s):  
Omer Erdeve ◽  
Saadet Arsan ◽  
Begum Atasay ◽  
Talia Ileri ◽  
Zumrut Uysal
Keyword(s):  
Vitamin B12 ◽  
Megaloblastic Anemia ◽  
Vitamin B12 Supplementation ◽  
Breast Fed

Vitamin B12-responsive megaloblastic anemia, homocystinuria, and transient methylmalonic aciduria in cbIE disease

1988 ◽  
Vol 113 (6) ◽  
pp. 1052-1056 ◽  
Author(s):  
Mendel Tuchman ◽  
Paula Kelly ◽  
David Watkins ◽  
David S. Rosenblatt
Keyword(s):  
Vitamin B12 ◽  
Megaloblastic Anemia ◽  
Methylmalonic Aciduria

scholarly journals Vitamin B12-responsive neonatal megaloblastic anemia and homocystinuria with associated reduced methionine synthase activity

Blood ◽  
1987 ◽  
Vol 69 (4) ◽  
pp. 1128-1133
Author(s):  
LJ Hallam ◽  
M Sawyer ◽  
AC Clark ◽  
MB Van der Weyden
Keyword(s):  
Vitamin B12 ◽  
Developmental Delay ◽  
Genetic Heterogeneity ◽  
Megaloblastic Anemia ◽  
Methylmalonic Aciduria ◽  
Methionine Synthase ◽  
Cultured Fibroblasts ◽  
Neurologic Recovery ◽  
Neurologic Development ◽  
Growth Requirement

We present findings on an infant with neonatal megaloblastic anemia, homocystinuria, and neurologic dysfunction that included developmental delay and tonic seizures. There was no methylmalonic aciduria. Cyanocobalamin therapy was accompanied by complete hematologic and neurologic recovery, diminished homocystine excretion, and subsequently normal neurologic development. Cultured fibroblasts and lymphoblasts showed a reduced methionine synthase activity and a growth requirement for methionine. Cobalamin incorporation by the patient's lymphoblasts was normal, but the proportion of cellular methylcobalamin in the patient's lymphoblasts and fibroblasts were markedly reduced and that of adenosylcobalamin normal. The reduced methionine synthase activity was independent of assay reducing (thiol) conditions, but normal levels of activity accompanied culture of the patient's lymphoblasts in medium with markedly increased cobalamin concentration. The characteristics of the reduced methionine synthase of our patient differ significantly from that of the previously described infant with cobalamin E disease and suggest that genetic heterogeneity may characterize this mutation.

scholarly journals Case Series on Vitamin B12 Deficiency...Though Rare but a Treatable Disease

2018 ◽  
Vol 1 (1) ◽  
Keyword(s):  
Vitamin B12 ◽  
Developmental Delay ◽  
Megaloblastic Anemia ◽  
Case Series ◽  
Vitamin B12 Deficiency ◽  
Breastfed Infants ◽  
B12 Deficiency ◽  
Breast Fed

Megaloblastic anemia due to vitamin B12 deficiency is an uncommon problem in childhood that is most frequently associated with decreased ingestion or impaired absorption or utilization of B12 [1,2]. Nutritional B12 deficiency in childhood is rare. Most cases are due to maternal insufficiency, resulting from deficient stores and intake generally among exclusively breastfed infants [3]. B12 deficiency in children often presents with nonspecific manifestations [4,5]. We present two cases of vitamin B12 deficiency in breast fed infants presenting as pancytopenia and gross developmental delay respectively

New Disorder of Vitamin B12 Metabolism (Cobalamin F) Presenting as Methylmalonic Aciduria

PEDIATRICS ◽  
1986 ◽  
Vol 78 (1) ◽  
pp. 51-54
Author(s):  
David S. Rosenblatt ◽  
Rachel Laframboise ◽  
Jeanne Pichette ◽  
Pierre Langevin ◽  
Bernard A. Cooper ◽  
...  
Keyword(s):  
Vitamin B12 ◽  
Developmental Delay ◽  
Megaloblastic Anemia ◽  
Methylmalonic Aciduria ◽  
Methionine Synthase ◽  
Cultured Fibroblasts ◽  
Whole Cells ◽  
Cell Extracts ◽  
Defective Incorporation

An infant with vitamin B12-responsive methylmalonic aciduria and no homocystinuria or megaloblastic anemia presented with stomatitis, glossitis, convulsions, and developmental delay. Cultured fibroblasts showed defective incorporation of both [14C]5-methyltetrahydrofolate and [14C]propionate into protein by whole cells and a decrease of methionine synthase activity in cell extracts. Despite excessive incorporation of [57Co]cyano-B12 by fibroblasts from the patient, free vitamin B12 was unable to efflux from lysosomes, and, therefore, synthesis of both adenosyl-B12 and methyl-B12 was impaired.

A case report on Subacute Combined Degeneration of spinal cord in children – A rare neurological manifestation in Vitamin B12 deficiencies

2017 ◽  
Vol 6 (12) ◽  
pp. 5562
Author(s):  
Tiana Mary Alexander ◽  
Vineeta Pande ◽  
Sharad Agarkhedkar ◽  
Dnyaneshwar Upase
Keyword(s):  
Spinal Cord ◽  
Case Report ◽  
Vitamin B12 ◽  
Pernicious Anemia ◽  
Chronic Diarrhea ◽  
Megaloblastic Anemia ◽  
Vegetarian Diet ◽  
Malabsorption Syndrome ◽  
Subacute Combined Degeneration ◽  
B12 Deficiency

Megaloblastic anemia is a common feature between 6 months – 2 years and rarely occurs after 5 years of age, especially in a child consuming non-vegetarian diet. B12 deficiency may occur after 5 years of age because of chronic diarrhea, malabsorption syndrome, or intestinal surgical causes. Pernicious anemia causes B12 deficiency, but nutritional B12 deficiency with subacute combined degeneration causing ataxia is rare.

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