pyridoxine has been researched along with Hypophosphatasia in 13 studies
4,5-bis(hydroxymethyl)-2-methylpyridin-3-ol: structure in first source
vitamin B6 : Any member of the group of pyridines that exhibit biological activity against vitamin B6 deficiency. Vitamin B6 deficiency is associated with microcytic anemia, electroencephalographic abnormalities, dermatitis with cheilosis (scaling on the lips and cracks at the corners of the mouth) and glossitis (swollen tongue), depression and confusion, and weakened immune function. Vitamin B6 consists of the vitamers pyridoxine, pyridoxal, and pyridoxamine and their respective 5'-phosphate esters (and includes their corresponding ionized and salt forms).
Hypophosphatasia: A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations include severe skeletal defects resembling vitamin D-resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. (From Dorland, 27th ed)
| Excerpt | Relevance | Reference |
|---|---|---|
| "Pyridoxine-responsive seizures (PRS) and the role of pyridoxine (PN, vitamin B(6)) in hypophosphatasia (HPP) are incompletely understood." | 7.74 | Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene. ( Baumgartner-Sigl, S; Ericson, KL; Haberlandt, E; Högler, W; Mumm, S; Ryan, L; Scholl-Bürgi, S; Sergi, C; Whyte, MP, 2007) |
| "Pyridoxine dependency and congenital hypophosphatasia are unusual metabolic disorders." | 7.71 | Pyridoxine-dependent seizures associated with hypophosphatasia in a newborn. ( Bica, I; Fiori, RM; Mugnol, F; Nunes, ML, 2002) |
| "We describe a case of photosensitivity due to pyridoxine hydrochloride (vitamin B(6)) in a heterozygote of hypophosphatasia." | 7.70 | Pyridoxine-induced photosensitivity and hypophosphatasia. ( Gomi, H; Kashima, A; Kawada, A; Matsuo, I; Orimo, H; Sasaki, G; Sato, S; Shiraishi, H; Yasuda, K, 2000) |
| "We measured plasma levels of pyridoxal-5'-phosphate (PLP), a cofactor form of vitamin B6 and apparent natural substrate for alkaline phosphatase (ALP), in carriers and in non-carriers of the severe perinatal and infantile forms of hypophosphatasia, both before and after an oral load of pyridoxine (i." | 7.68 | Increased plasma pyridoxal-5'-phosphate levels before and after pyridoxine loading in carriers of perinatal/infantile hypophosphatasia. ( Chodirker, BN; Coburn, SP; Greenberg, CR; Seargeant, LE; Whyte, MP, 1990) |
| "Hypophosphatasia is a rare inherited disorder of bone and mineral metabolism caused by a number of loss-of-function mutations in the ALPL gene." | 5.43 | Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene. ( Bircan, İ; Çelmeli, G; Güzel Nur, B; Manguoğlu, E; Mıhçı, E; Soyucen, E, 2016) |
| "Pyridoxal phosphate was extremely high in CSF and plasma." | 5.40 | Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures. ( Abeling, NGGM; Bosch, AM; Cobben, JM; de Roo, MGA; Duran, M; Koelman, JHTM; Majoie, CB; Poll-The, BT, 2014) |
| ""Perinatal" hypophosphatasia is the most severe form of this inborn error of metabolism, which is characterized by deficient activity of the tissue-nonspecific (liver/bone/kidney) isoenzyme of alkaline phosphatase (ALP) (TNSALP)." | 5.27 | Perinatal hypophosphatasia: tissue levels of vitamin B6 are unremarkable despite markedly increased circulating concentrations of pyridoxal-5'-phosphate. Evidence for an ectoenzyme role for tissue-nonspecific alkaline phosphatase. ( Coburn, SP; Cole, FS; Fedde, KN; Mahuren, JD; McCabe, ER; Whyte, MP, 1988) |
| "Hypophosphatasia (HPP), an inherited, metabolic disorder caused by loss-of-function mutations in the ALPL gene, affects not only bone and tooth mineralization but also central nervous system (CNS) function, resulting in vitamin B6/pyridoxine-responsive seizures." | 4.12 | Status Epilepticus due to Asfotase Alfa Interruption in Perinatal Severe Hypophosphatasia. ( Miyama, S; Ogawa, E; Shimura, K; Yoshihashi, H, 2022) |
| " It frequently accompanies pyridoxine-responsive seizures." | 3.91 | Findings of amplitude-integrated electroencephalogram recordings and serum vitamin B6 metabolites in perinatal lethal hypophosphatasia during enzyme replacement therapy. ( Akiyama, T; Hayakawa, M; Ishiguro, T; Kotani, T; Michigami, T; Muramatsu, Y; Sugiyama, Y; Tachikawa, K; Tsuda, H; Ueda, K, 2019) |
| "Pyridoxine-responsive seizures (PRS) and the role of pyridoxine (PN, vitamin B(6)) in hypophosphatasia (HPP) are incompletely understood." | 3.74 | Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene. ( Baumgartner-Sigl, S; Ericson, KL; Haberlandt, E; Högler, W; Mumm, S; Ryan, L; Scholl-Bürgi, S; Sergi, C; Whyte, MP, 2007) |
| "Pyridoxine dependency and congenital hypophosphatasia are unusual metabolic disorders." | 3.71 | Pyridoxine-dependent seizures associated with hypophosphatasia in a newborn. ( Bica, I; Fiori, RM; Mugnol, F; Nunes, ML, 2002) |
| "We describe a case of photosensitivity due to pyridoxine hydrochloride (vitamin B(6)) in a heterozygote of hypophosphatasia." | 3.70 | Pyridoxine-induced photosensitivity and hypophosphatasia. ( Gomi, H; Kashima, A; Kawada, A; Matsuo, I; Orimo, H; Sasaki, G; Sato, S; Shiraishi, H; Yasuda, K, 2000) |
| "We measured plasma levels of pyridoxal-5'-phosphate (PLP), a cofactor form of vitamin B6 and apparent natural substrate for alkaline phosphatase (ALP), in carriers and in non-carriers of the severe perinatal and infantile forms of hypophosphatasia, both before and after an oral load of pyridoxine (i." | 3.68 | Increased plasma pyridoxal-5'-phosphate levels before and after pyridoxine loading in carriers of perinatal/infantile hypophosphatasia. ( Chodirker, BN; Coburn, SP; Greenberg, CR; Seargeant, LE; Whyte, MP, 1990) |
| "Hypophosphatasia is a rare genetic disease, which causes imbalances between B6 vitamers." | 1.91 | Hypophosphatasia as a plausible cause of vitamin B6 associated mouth pain: a case-report. ( Andersen, ES; Brasen, CL; Rasmussen, M, 2023) |
| "Hypophosphatasia is a rare inherited disorder of bone and mineral metabolism caused by a number of loss-of-function mutations in the ALPL gene." | 1.43 | Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene. ( Bircan, İ; Çelmeli, G; Güzel Nur, B; Manguoğlu, E; Mıhçı, E; Soyucen, E, 2016) |
| "Pyridoxal phosphate was extremely high in CSF and plasma." | 1.40 | Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures. ( Abeling, NGGM; Bosch, AM; Cobben, JM; de Roo, MGA; Duran, M; Koelman, JHTM; Majoie, CB; Poll-The, BT, 2014) |
| ""Perinatal" hypophosphatasia is the most severe form of this inborn error of metabolism, which is characterized by deficient activity of the tissue-nonspecific (liver/bone/kidney) isoenzyme of alkaline phosphatase (ALP) (TNSALP)." | 1.27 | Perinatal hypophosphatasia: tissue levels of vitamin B6 are unremarkable despite markedly increased circulating concentrations of pyridoxal-5'-phosphate. Evidence for an ectoenzyme role for tissue-nonspecific alkaline phosphatase. ( Coburn, SP; Cole, FS; Fedde, KN; Mahuren, JD; McCabe, ER; Whyte, MP, 1988) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 2 (15.38) | 18.7374 |
| 1990's | 1 (7.69) | 18.2507 |
| 2000's | 4 (30.77) | 29.6817 |
| 2010's | 4 (30.77) | 24.3611 |
| 2020's | 2 (15.38) | 2.80 |
| Authors | Studies |
|---|---|
| Ogawa, E | 1 |
| Shimura, K | 1 |
| Yoshihashi, H | 1 |
| Miyama, S | 1 |
| Andersen, ES | 2 |
| Rasmussen, M | 2 |
| Brasen, CL | 2 |
| Ishiguro, T | 1 |
| Sugiyama, Y | 1 |
| Ueda, K | 1 |
| Muramatsu, Y | 1 |
| Tsuda, H | 1 |
| Kotani, T | 1 |
| Michigami, T | 1 |
| Tachikawa, K | 1 |
| Akiyama, T | 1 |
| Hayakawa, M | 1 |
| de Roo, MGA | 1 |
| Abeling, NGGM | 1 |
| Majoie, CB | 1 |
| Bosch, AM | 1 |
| Koelman, JHTM | 1 |
| Cobben, JM | 1 |
| Duran, M | 1 |
| Poll-The, BT | 1 |
| Güzel Nur, B | 1 |
| Çelmeli, G | 1 |
| Manguoğlu, E | 1 |
| Soyucen, E | 1 |
| Bircan, İ | 1 |
| Mıhçı, E | 1 |
| Demirbilek, H | 1 |
| Alanay, Y | 1 |
| Alikaşifoğlu, A | 1 |
| Topçu, M | 1 |
| Mornet, E | 1 |
| Gönç, N | 1 |
| Özön, A | 1 |
| Kandemir, N | 1 |
| Baumgartner-Sigl, S | 1 |
| Haberlandt, E | 1 |
| Mumm, S | 1 |
| Scholl-Bürgi, S | 1 |
| Sergi, C | 1 |
| Ryan, L | 1 |
| Ericson, KL | 1 |
| Whyte, MP | 4 |
| Högler, W | 1 |
| Kawada, A | 1 |
| Kashima, A | 1 |
| Shiraishi, H | 1 |
| Gomi, H | 1 |
| Matsuo, I | 1 |
| Yasuda, K | 1 |
| Sasaki, G | 1 |
| Sato, S | 1 |
| Orimo, H | 1 |
| Narisawa, S | 1 |
| Wennberg, C | 1 |
| Millán, JL | 1 |
| Nunes, ML | 1 |
| Mugnol, F | 1 |
| Bica, I | 1 |
| Fiori, RM | 1 |
| Chodirker, BN | 1 |
| Coburn, SP | 3 |
| Seargeant, LE | 1 |
| Greenberg, CR | 1 |
| Mahuren, JD | 2 |
| Fedde, KN | 1 |
| Cole, FS | 1 |
| McCabe, ER | 1 |
| Vrabel, LA | 1 |
13 other studies available for pyridoxine and Hypophosphatasia
| Article | Year |
|---|---|
Status Epilepticus due to Asfotase Alfa Interruption in Perinatal Severe Hypophosphatasia.
Topics: Alkaline Phosphatase; Enzyme Replacement Therapy; Female; Humans; Hypophosphatasia; Immunoglobulin G | 2022 |
Hypophosphatasia as a plausible cause of vitamin B6 associated mouth pain: a case-report.
Topics: Adult; Alkaline Phosphatase; Chronic Pain; Humans; Hypophosphatasia; Male; Pyridoxine; Vitamin B 6 | 2023 |
Hypophosphatasia as a plausible cause of vitamin B6 associated mouth pain: a case-report.
Topics: Adult; Alkaline Phosphatase; Chronic Pain; Humans; Hypophosphatasia; Male; Pyridoxine; Vitamin B 6 | 2023 |
Hypophosphatasia as a plausible cause of vitamin B6 associated mouth pain: a case-report.
Topics: Adult; Alkaline Phosphatase; Chronic Pain; Humans; Hypophosphatasia; Male; Pyridoxine; Vitamin B 6 | 2023 |
Hypophosphatasia as a plausible cause of vitamin B6 associated mouth pain: a case-report.
Topics: Adult; Alkaline Phosphatase; Chronic Pain; Humans; Hypophosphatasia; Male; Pyridoxine; Vitamin B 6 | 2023 |
Findings of amplitude-integrated electroencephalogram recordings and serum vitamin B6 metabolites in perinatal lethal hypophosphatasia during enzyme replacement therapy.
Topics: Alkaline Phosphatase; Electroencephalography; Enzyme Replacement Therapy; Female; Humans; Hypophosph | 2019 |
Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures.
Topics: Alkaline Phosphatase; Drug Resistance; Epilepsy; Humans; Hypophosphatasia; Infant; Male; Pyridoxal P | 2014 |
Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene.
Topics: Alkaline Phosphatase; Calcitonin; Diuretics; Female; Furosemide; Homozygote; Humans; Hypophosphatasi | 2016 |
Hypophosphatasia presenting with pyridoxine-responsive seizures, hypercalcemia, and pseudotumor cerebri: case report.
Topics: Alkaline Phosphatase; Consanguinity; Diagnosis, Differential; Fatal Outcome; Homozygote; Humans; Hyp | 2012 |
Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene.
Topics: Alkaline Phosphatase; Ethanolamines; Exons; Fatal Outcome; Female; Humans; Hypercalcemia; Hypercalci | 2007 |
Pyridoxine-induced photosensitivity and hypophosphatasia.
Topics: Adult; Alkaline Phosphatase; Amino Acid Sequence; Base Sequence; DNA; DNA Mutational Analysis; Femal | 2000 |
Abnormal vitamin B6 metabolism in alkaline phosphatase knock-out mice causes multiple abnormalities, but not the impaired bone mineralization.
Topics: Abnormalities, Multiple; Alkaline Phosphatase; Animals; Calcification, Physiologic; Cell Culture Tec | 2001 |
Pyridoxine-dependent seizures associated with hypophosphatasia in a newborn.
Topics: Bone Density; Bone Diseases; Consanguinity; Drug Administration Schedule; Electroencephalography; Fe | 2002 |
Increased plasma pyridoxal-5'-phosphate levels before and after pyridoxine loading in carriers of perinatal/infantile hypophosphatasia.
Topics: Adult; Female; Heterozygote; Humans; Hypophosphatasia; Male; Middle Aged; Pyridoxal Phosphate; Pyrid | 1990 |
Perinatal hypophosphatasia: tissue levels of vitamin B6 are unremarkable despite markedly increased circulating concentrations of pyridoxal-5'-phosphate. Evidence for an ectoenzyme role for tissue-nonspecific alkaline phosphatase.
Topics: Alkaline Phosphatase; Female; Fetal Death; Humans; Hypophosphatasia; Infant, Newborn; Male; Pregnanc | 1988 |
Markedly increased circulating pyridoxal-5'-phosphate levels in hypophosphatasia. Alkaline phosphatase acts in vitamin B6 metabolism.
Topics: Adult; Aged; Alkaline Phosphatase; Child; Child, Preschool; Diet; Female; Humans; Hypophosphatasia; | 1985 |