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

Akiyama, Tomoyuki; Hayashi, Yumiko; Hanaoka, Yoshiyuki; Shibata, Takashi; Akiyama, Mari; Tsuchiya, Hiroki; Yamaguchi, Tokito; Kobayashi, Katsuhiro

doi:10.1016/j.cca.2017.07.032

Cited by 19 publications

(15 citation statements)

References 12 publications

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“…We demonstrated that a PLP-to-PL ratio of approximately 4.0 is a good cut-off value to evaluate the effect of ERT. This cut-off value corresponds well to the upper limit of the serum PLP-to-PL ratio that was shown in previous studies [9,13].…”

Section: Discussionsupporting

confidence: 86%

“…Compared with the control ranges [9], the serum samples from all patients without ERT showed abnormally high PLP concentrations. PL concentrations were elevated in most of the samples but there was a sample with a reduced PL concentration from a patient with perinatal severe HPP with VB6-responsive seizures (Case 1).…”

Section: Plp Pl and Pa Concentrations Without Ertmentioning

confidence: 74%

“…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%

“…Because serum PLP, PL, and PA concentrations, and the PLP-to-PL ratio are age-related [9], we investigated the effect of age and phenotype severity (severe [perinatal severe HPP and infantile HPP] vs. mild [other phenotypes], analyzed as a categorical variable) on these values using multiple regression analysis. The PLP concentration was associated with phenotype severity (p < 0.0001) but not with age (p = 0.388).…”

Section: Plp Pl and Pa Concentrations Without Ertmentioning

confidence: 99%

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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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Section: Discussionsupporting

confidence: 86%

Section: Plp Pl and Pa Concentrations Without Ertmentioning

confidence: 74%

Section: Assay Of Plp Pl and Pamentioning

confidence: 99%

Section: Plp Pl and Pa Concentrations Without Ertmentioning

confidence: 99%

See 2 more Smart Citations

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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“…To evaluate serum phosphorus (P), Sysmex IP reagents L “Kokusai” (Sysmex corporation, Kobe, Japan) was used. Serum pyridoxal phosphate and pyridoxal levels were measured using high-performance liquid chromatography with fluorescence detection, using pre-column derivatization by semicarbazide ( 5 ).…”

Section: Methodsmentioning

confidence: 99%

A case of perinatal hypophosphatasia with a novel mutation in the <i>ALPL</i> gene: clinical course and review of the literature

Oyachi

Harada

Sakamoto

et al. 2018

Clin Pediatr Endocrinol

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Abstract.Hypophosphatasia (HPP) is a metabolic bone disease characterized by failure of bone calcification and vitamin B6 dependent seizures. It is caused by loss-of-function mutations in the ALPL gene. A newborn girl required respiratory support by nasal-directional positive airway pressure at birth, and pyridoxine hydrochloride administration for vitamin B6-dependent seizures observed from day two. Umbilical cord blood showed low alkaline phosphatase (ALP) activity and high pyridoxal phosphate levels. Radiographs showed severe rickets-like appearance of the bones. Genetic analysis of the ALPL gene revealed compound heterozygous mutations, c.1559delT/p.Ser188Pro. We diagnosed her with perinatal severe HPP, and started the patient on asfotase alfa from day six. Following enzyme replacement therapy (ERT), skeletal mineralization and respiratory insufficiency improved with no remarkable side-effects. Crying vital capacity (CVC) was used to evaluate respiratory status, which continuously improved from 13.3 mL/kg (day 22) to 20.6 mL/kg (day 113). Since no seizures occurred, pyridoxine hydrochloride was tapered off at one year of age. Strategies to manage perinatal severe HPP cases following ERT have not been established till date. A review of the literature shows that CVC may be a good indicator for weaning from ventilatory support. In addition, ERT will most likely enable withdrawal of pyridoxine treatment.

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Hypophosphatasia: Vitamin B6 status of affected children and adults

Whyte

Zhang

Wenkert

et al. 2022

Bone

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

Cited by 19 publications

References 12 publications

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

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

A case of perinatal hypophosphatasia with a novel mutation in the <i>ALPL</i> gene: clinical course and review of the literature

Hypophosphatasia: Vitamin B6 status of affected children and adults

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