Measurement of pyridoxal 5′-phosphate, pyridoxal, and 4-pyridoxic acid in the cerebrospinal fluid of children

Akiyama, Tomoyuki; Akiyama, Mari; Hayashi, Yumiko; Shibata, Takashi; Hanaoka, Yoshiyuki; Toda, Soichiro; Imai, Katsumi; Hamano, Shin ichiro; Okanishi, Tohru; Yoshinaga, Harumi; Kobayashi, Katsuhiro

doi:10.1016/j.cca.2016.12.027

Cited by 14 publications

(8 citation statements)

References 9 publications

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“…While a low CSF PLP concentration is suggestive of a B 6 ‐dependent epilepsy disorder it may also be found in epileptic encephalopathy with no specific diagnosis and it should be noted that one PNPO‐deficient child had PLP concentrations within the normal range . A rapid LC‐MS/MS‐based dried blood spot assay, which measures PNPO enzyme activity, has been developed for diagnosis of PNPO‐deficiency .…”

Section: Pyridox(am)ine Phosphate Oxidase Deficiencymentioning

confidence: 99%

Disorders affecting vitamin B₆ metabolism

Wilson¹,

Plecko²,

Mills³

et al. 2019

J of Inher Metab Disea

174

186

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Vitamin B6 is present in our diet in many forms, however, only pyridoxal 5′‐phosphate (PLP) can function as a cofactor for enzymes. The intestine absorbs nonphosphorylated B6 vitamers, which are converted by specific enzymes to the active PLP form. The role of PLP is enabled by its reactive aldehyde group. Pathways reliant on PLP include amino acid and neurotransmitter metabolism, folate and 1‐carbon metabolism, protein and polyamine synthesis, carbohydrate and lipid metabolism, mitochondrial function and erythropoiesis. Besides the role of PLP as a cofactor B6 vitamers also play other cellular roles, for example, as antioxidants, modifying expression and action of steroid hormone receptors, affecting immune function, as chaperones and as an antagonist of Adenosine‐5'‐triphosphate (ATP) at P2 purinoceptors. Because of the vital role of PLP in neurotransmitter metabolism, particularly synthesis of the inhibitory transmitter γ‐aminobutyric acid, it is not surprising that various inborn errors leading to PLP deficiency manifest as B6‐responsive epilepsy, usually of early onset. This includes pyridox(am)ine phosphate oxidase deficiency (a disorder affecting PLP synthesis and recycling), disorders affecting PLP import into the brain (hypophosphatasia and glycosylphosphatidylinositol anchor synthesis defects), a disorder of an intracellular PLP‐binding protein (PLPBP, previously named PROSC) and disorders where metabolites accumulate that inactivate PLP, for example, ALDH7A1 deficiency and hyperprolinaemia type II. Patients with these disorders can show rapid control of seizures in response to either pyridoxine and/or PLP with a lifelong dependency on supraphysiological vitamin B6 supply. The clinical and biochemical features of disorders leading to B6‐responsive seizures and the treatment of these disorders are described in this review.

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Section: Pyridox(am)ine Phosphate Oxidase Deficiencymentioning

confidence: 99%

Disorders affecting vitamin B₆ metabolism

Wilson¹,

Plecko²,

Mills³

et al. 2019

J of Inher Metab Disea

174

186

View full text Add to dashboard Cite

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“…The frozen serum samples were thawed in a refrigerator at 4°C. Assay of PLP, PL and PA concentrations was conducted using high-performance liquid chromatography after derivatization of PLP and PL by semicarbazide hydrochloride under mildly acidic conditions, as previously reported [8,9]. The PLP-to-PL ratio (PLP/PL), which is considered to reflect the activity of ALP (conversion of PLP to PL) and pyridoxal kinase (conversion of PL to PLP), was calculated.…”

Section: Assay Of Plp Pl and Pamentioning

confidence: 99%

Pyridoxal 5′-phosphate and related metabolites in hypophosphatasia: Effects of enzyme replacement therapy

Akiyama

Kubota

Ozono

et al. 2018

Molecular Genetics and Metabolism

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“…In a previous report, the cerebrospinal fluid of epileptic patients showed lower PLP concentrations and PLP/PL ratios than that of non-epileptic patients (25), suggesting that susceptibility to epilepsy may be associated with these findings. In that same report, PL kinase was suggested to play an important role in the metabolism of vitamin B6 vitamers, especially in the brain.…”

Section: Discussionmentioning

confidence: 71%

An Adult Case of Generalized Convulsions Caused by the Ingestion of <i>Ginkgo biloba</i> Seeds with Alcohol

et al. 2020

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A 64-year-old woman developed symptoms of vomiting and tonic-clonic convulsions 9.5 h after eating 50 roasted Ginkgo biloba seeds with 100 g of alcohol. The intravenous administration of pyridoxal phosphate effectively improved the symptoms. Blood samples were collected and stored over 35 h. The assessment of 4'-O-methylpyridoxine and vitamin B6 vitamers indicated high levels of both, but the pyridoxal phosphate levels were low during the acute stage. These results suggest that 4'-O-methylpyridoxine inhibits the transformation of vitamin B6 analogues to the active form, pyridoxal phosphate. In our case, alcohol may have extended the period until ginkgo intoxication appeared.

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Measurement of pyridoxal 5′-phosphate, pyridoxal, and 4-pyridoxic acid in the cerebrospinal fluid of children

Cited by 14 publications

References 9 publications

Disorders affecting vitamin B₆ metabolism

Disorders affecting vitamin B₆ metabolism

Pyridoxal 5′-phosphate and related metabolites in hypophosphatasia: Effects of enzyme replacement therapy

An Adult Case of Generalized Convulsions Caused by the Ingestion of <i>Ginkgo biloba</i> Seeds with Alcohol

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Measurement of pyridoxal 5′-phosphate, pyridoxal, and 4-pyridoxic acid in the cerebrospinal fluid of children

Cited by 14 publications

References 9 publications

Disorders affecting vitamin B6 metabolism

Disorders affecting vitamin B6 metabolism

Pyridoxal 5′-phosphate and related metabolites in hypophosphatasia: Effects of enzyme replacement therapy

An Adult Case of Generalized Convulsions Caused by the Ingestion of <i>Ginkgo biloba</i> Seeds with Alcohol

Contact Info

Product

Resources

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Disorders affecting vitamin B₆ metabolism

Disorders affecting vitamin B₆ metabolism