Pyridoxine- Responsive Anemias in Man

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

doi:10.1016/s0083-6729(08)60774-8

Cited by 19 publications

(10 citation statements)

References 28 publications

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“…Pyridoxine-responsive anemias in humans have been reported (Horrigan & Harris, 1968). Patients had low hemoglobin concentrations in our study; however, vitamin B6 status revealed no effect on hemoglobin concentration.…”

Section: Discussioncontrasting

confidence: 55%

Vitamin B6 intakes and status of mechanically ventilated critically ill patients in Taiwan

Huang¹,

Ph²,

Chen³

et al. 2002

Eur J Clin Nutr

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Objective: To assess vitamin B6 intake and status of critically ill patients. The relationship between vitamin B6 status indicators and the severity of illness and outcome in these patients was also examined. Design: Prospective clinical study. Setting: The study was performed at the Taichung Veteran General Hospital, in the central part of Taiwan. Subjects: Ninety-four patients in the intensive care unit (ICU) entered the study and 46 patients successfully completed this study. Interventions: No intervention. Main outcome measures: Vitamin B6 intake was recorded for 14 days. Vitamin B6 status was assessed by direct measures (plasma pyridoxal 5 0 -phosphate (PLP), pyridoxal (PL), and urinary 4-pyridoxic acid (4-PA)) and indirect measures (erythrocyte alanine (EALT-AC) and aspartate (EAST-AC) aminotransaminase activity coefficient). The severity of illness (APACHE II score), the length of ventilation dependency, and the length of ICU and hospital stay were recorded. Results: Patients had an adequate mean vitamin B6 intake (16.26 AE 19.39 mg) during the 14 day study. Mean vitamin B6 intake was significantly higher on day 14 than on day 1 (P < 0.001). However, plasma PLP and PL concentrations significantly decreased at the 14th day after admission (P < 0.05). Erythrocyte alanine aminotransaminase activity coefficient and EAST-AC did not change significantly. Urinary 4-PA significantly increased at the 14th day (P < 0.001). No significant relationships were found between APACHE II scores and clinical outcomes (the length of ICU and hospital stay, the length of ventilation dependency) of patients, vitamin B6 intake or status indicators. Conclusions: Critically ill patients received nutritional support in the ICU, and had sufficient mean vitamin B6 intake and adequate vitamin B6 status. Therefore, the severity of illness and the results should not be affected by vitamin B6 status. However, we have noted that plasma PLP and PL concentrations significantly decreased while vitamin B6 intake significantly increased on day 14. Critical clinical conditions and complex metabolism in the critically ill may account for the reduction of plasma PLP and PL. Since vitamin B6 deficiency causes profound effects on immune system function, dietary or supplemented vitamin B6 intake is suggested for hospitalized patients.

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Section: Discussioncontrasting

confidence: 55%

Vitamin B6 intakes and status of mechanically ventilated critically ill patients in Taiwan

Huang¹,

Ph²,

Chen³

et al. 2002

Eur J Clin Nutr

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“…An agerelated decline in pyridoxine metabolism in combination with a reduced vitamin intake has been described in elderly populations (41,42 (24). In addition, several other cases of middle-aged/elderly individuals with pyridoxine responsive RARS have been reported (10,39). These cases had a clinical course suggestive of late-onset XLSA due to mutations of ALAS2.…”

Section: Discussionmentioning

confidence: 99%

“…XLSA has been shown to be due to mutations in the erythroidspecific 6-aminolevulinate synthase (ALAS2) gene at Xp 1.21 encoding the first enzyme in the heme biosynthetic pathway (3)(4)(5)(6)(7)(8)(9). The disease is usually detectable in newborns but may not present clinically until midlife or, rarely, later (1,10). Patients generally have severe hypochromic, microcytic anemia with increased iron storage that shows a partial clinical response to pyridoxine ( 1).…”

Section: Introductionmentioning

confidence: 99%

Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts.

Cotter¹,

May²,

Fitzsimons³

et al. 1995

J. Clin. Invest.

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X-linked sideroblastic anemia (XLSA) is caused by mutations of the erythroid-specific 6-aminolevulinate synthase gene (ALAS2) resulting in deficient heme synthesis. The characteristic hypochromic, microcytic anemia typically becomes manifest in the first three decades of life. Hematologic response to pyridoxine is variable and rarely complete. We report two unrelated cases of highly pyridoxine-responsive XLSA in geriatric patients previously diagnosed with refractory anemia and ringed sideroblasts. A previously unaffected 77-yr-old male and an 81-yr-old female were each found to have developed severe hypochromic, microcytic anemia with ringed sideroblasts in the bone marrow, which responded dramatically to pyridoxine with normalization of hemoglobin values. Sequence analysis identified an A to C transversion in exon 7 (K299Q) of the ALAS2 gene in the male proband and his daughter. In the female proband a

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“…It is interesting that total protoporphyrin is also somewhat elevated in the homozygous porphyrias 27 where, as in this case of promoter down-regulated ALAS2, heme pathway intermediates would be expected to be in low concentration. Nonetheless, most studies have found that free erythrocyte protoporphyrin is low in pyridoxine-responsive anemias (eg, Horrigan and Harris 28 ).…”

Section: Discussionmentioning

confidence: 99%

A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia

Bekri

May

Cotter

et al. 2003

Blood

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X-linked sideroblastic anemia (XLSA) is caused by mutations in the erythroidspecific 5-aminolevulinate synthase gene (ALAS2). XLSA was diagnosed in a 32-year-old woman with a mild phenotype and moderately late onset. Pyridoxine therapy had no effect in the proband, but in her affected son engendered a modest increase in hemoglobin concentration and a 4-fold reduction in ferritin iron. Molecular analysis identified a C to G transversion at nucleotide ؊206 from the transcription start site, as defined by primer

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Pyridoxine- Responsive Anemias in Man

Cited by 19 publications

References 28 publications

Vitamin B6 intakes and status of mechanically ventilated critically ill patients in Taiwan

Vitamin B6 intakes and status of mechanically ventilated critically ill patients in Taiwan

Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts.

A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia

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