Pyridoxine-Responsive Anemia—Prototype and Variations on the Theme

Harris, J. W.; Horrigan, Daniel L.

doi:10.1016/s0083-6729(08)60362-3

Cited by 32 publications

(5 citation statements)

References 72 publications

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“…The chief function of this vitamin is in the metabolism of amino acids (Williams, 1964), but it is also involved in lipid and carbohydrate metabolism (Wiss and Weber, 1964;Mueller, 1964). It is beyond the scope of this report to acknowledge the many investigators who have made significant contributions to the knowledge of requirements and functions of this important vitamin ; these have been reviewed in recent years (Robinson, 1951;Wiss and Weber, 1964;Snell, 1958;Storvick and Peters, 1964;Harris et al, 1964).…”

Section: Resultsmentioning

confidence: 99%

“…Another example of vitamin Be function is illustrated by the disease pyridoxine responsive anemia. Individuals with this condition have a microcytic, hypochromic anemia on a normal diet (Harris and Horrigan, 1964), are unresponsive to other forms of therapy, but respond to 10 to 20 mg of pyridoxine per day with return to normal hemoglobin values. Pyridoxal phosphate catalyzes the formation of 8-aminolevulinic acid from glycine and succinyl CoA as a step in heme synthesis.…”

Section: Ernest E Mccoy* and Carlo Colombinilmentioning

confidence: 99%

“…It is beyond the scope of this report to acknowledge the many investigators who have made significant contributions to the knowledge of requirements and functions of this important vitamin; these have been reviewed in recent years (Robinson, 1951;Wiss and Weber, 1964;Snell, 1958;Storvick and Peters, 1964;Harris et al, 1964).…”

Section: Literature Citedmentioning

confidence: 99%

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Interconversions of vitamin B6 in mammalian tissue

McCoy¹,

Colombini²

1972

J. Agric. Food Chem.

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Section: Resultsmentioning

confidence: 99%

Section: Ernest E Mccoy* and Carlo Colombinilmentioning

confidence: 99%

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Interconversions of vitamin B6 in mammalian tissue

McCoy¹,

Colombini²

1972

J. Agric. Food Chem.

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“…There are a number of features that make this pedigree unique. With the exception of rare multi-organ syndromes, the inherited forms of sideroblastic anaemia are typically microcytic (Cooley, 1945;Harris & Horrigan, 1964;May & Fitzsimons, 1994). Female carriers may have a dimorphic red cell picture and ring sideroblasts, but are not usually anaemic (Lee et al, 1968;Holmes et al, 1990).…”

Section: Discussionmentioning

confidence: 99%

A novel form of hereditary sideroblastic anaemia with macrocytosis

et al. 1997

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Summary.We describe a pedigree with maternally inherited sideroblastic anaemia in which the red cells are dimorphic with a raised MCV. To our knowledge, this form of hereditary sideroblastic anaemia (HSA) has not been reported previously. 16 members of the family were investigated, revealing eight affected members. Two further family members were not tested but were presumed affected on the histories available. The proband, born in 1967, presented during pregnancy with a macrocytic anaemia (Hb 7 . 0 g/dl, MCV 106 fl) and a dimorphic red cell picture. Post partum, a bone marrow biopsy showed hypercellularity, mild dyserythropoiesis and ring sideroblasts. Cytogenetics were normal. Other causes of macrocytosis were excluded.Six other family members (three female, three male) have similar findings. There is no evidence of paternal transmission. An additional female relative who presented in 1992 with refractory anaemia with excess blasts in transformation and a dimorphic blood film, died from progression to AML. Affected members show a raised metal-free red cell protoporphyrin level suggestive of a defect at the level of Fe2 þ incorporation into protoporphyrin. We propose that this form of HSA is due to a mitochondrial mutation. A search for deletions or point mutations in the mitochondrial DNA is currently underway.

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“…After this case report a considerable number of patients with pyridoxineresponsive anemia was reported. Besides the patients with classical type, cases with somewhat different features were also reported (2,3).…”

Section: Introductionmentioning

confidence: 99%