Use of chlorite to improve HPLC detection of pyridoxal 5′-phosphate

Ericson, Karen L.; Mahuren, J D; Zubovic, Yvonne; Coburn, Stephen P.

doi:10.1016/j.jchromb.2005.07.017

Cited by 25 publications

(18 citation statements)

References 8 publications

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“…Plasma PLP was measured in this patient, and had been assayed in most of our previous HPP patients, in our research laboratory in Fort Wayne, IN, USA. (16) Genomic DNA was extracted from peripheral blood leukocytes using the Gentra Puregene DNA extraction kit (Invitrogen, Carlsbad, CA, USA). TNSALP mutation analysis was performed in our research laboratory by sequencing all of the coding exons and adjacent mRNA splice sites of this gene using previously described PCR and sequencing primers and conditions.…”

Section: Methodsmentioning

confidence: 99%

“Atypical femoral fractures” during bisphosphonate exposure in adult hypophosphatasia

Sutton

Mumm

Coburn

et al. 2012

Journal of Bone and Mineral Research

159

130

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We report a 55-year-old woman who suffered atypical subtrochanteric femoral fractures (ASFFs) after 4 years of exposure to alendronate and then zolendronate given for ''osteoporosis.'' Before alendronate treatment, she had low bone mineral density. After several months of therapy, metatarsal stress fractures began. Bisphosphonate (BP) administration was stopped following the ASFFs, and the adult form of hypophosphatasia (HPP) was diagnosed from low serum alkaline phosphatase (ALP) activity, high endogenous levels of two natural substrates for the ''tissue-nonspecific'' isoenzyme of ALP (TNSALP), and a heterozygous mutation within the gene that encodes this enzyme. Experience with other HPP families showed that her mutation (Arg71His) with a second defective TNSALP allele can cause severe HPP in infancy, and when heterozygous can cause mild HPP featuring premature loss of deciduous teeth in children. Because the skeletal disease of HPP results from extracellular accumulation of the TNSALP substrate inorganic pyrophosphate (PPi) and its inhibitory effect on mineralization, perhaps HPP patients or carriers will have adverse effects from BPs. BPs are analogues of PPi and can suppress bone turnover but also deactivate TNSALP. Our report is the first of BP exposure preceding ASFFs in adult HPP. To explore a potential role for TNSALP deactivation in ASFFs, mutation analysis of TNSALP should be studied in a cohort of these patients. Meanwhile, clinicians must suspect HPP when clinical or laboratory clues include premature loss of primary dentition, pseudofractures or recurrent poorly healing metatarsal stress fractures, a family history suggestive of HPP, or low serum ALP activity. If HPP is documented, BP treatment might be avoided. To establish the diagnosis of HPP, assays for two natural substrates for TNSALP and TNSALP mutation analysis are available in commercial laboratories. With positive findings, radiological or bone biopsy evidence of acquired osteomalacia would indicate the adult form of this inborn-error-of-metabolism. ß

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Section: Methodsmentioning

confidence: 99%

“Atypical femoral fractures” during bisphosphonate exposure in adult hypophosphatasia

Sutton

Mumm

Coburn

et al. 2012

Journal of Bone and Mineral Research

159

130

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“…To search for biochemical evidence of HPP (see Radiological Findings), we assayed plasma pyridoxal 5 0 -phosphate (PLP) (27) and serum PPi (28) levels. Similarly, serum levels of the brain isoenzyme of creatine kinase (CK-BB) (Kit #K20; Sebia, Norcross, GA, USA), (29) tartrate-resistant acid phosphatase, TRAP-5b (Kit #8033, Quidel; Los Angeles, CA, USA), lactate dehydrogenase (LDH), (26) and aspartate aminotransferase (AST) (26) were assayed for evidence of OPT.…”

Section: Patient and Methodsmentioning

confidence: 99%

Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy

Otero

Gottesman

McAlister

et al. 2012

Journal of Bone and Mineral Research

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Generalized arterial calcification (AC) of infancy (GACI) is an autosomal recessive disorder that features hydroxyapatite deposition within arterial elastic fibers. Untreated, approximately 85% of GACI patients die by 6 months of age from cardiac ischemia and congestive heart failure. The first-generation bisphosphonate etidronate (EHDP; ethane-1-hydroxy-1,1-diphosphonic acid, also known as 1-hydroxyethylidene-bisphosphonate) inhibits bone resorption and can mimic endogenous inorganic pyrophosphate by blocking mineralization. With EHDP therapy for GACI, AC may resolve without recurrence upon treatment cessation. Skeletal disease is not an early characteristic of GACI, but rickets can appear from acquired hypophosphatemia or prolonged EHDP therapy. We report a 7-year-old boy with GACI referred for profound, acquired, skeletal disease. AC was gone after 5 months of EHDP therapy during infancy, but GACI-related joint calcifications progressed. He was receiving EHDP, 200 mg/day orally, and had odynodysphagia, diffuse opioid-controlled pain, plagiocephaly, facial dysmorphism, joint calcifications, contractures, and was wheelchair bound. Biochemical parameters of mineral homeostasis were essentially normal. Serum osteocalcin was low and the brain isoform of creatine kinase and tartrate-resistant acid phosphatase 5b (TRAP-5b) were elevated as in osteopetrosis. Skeletal radiographic findings resembled pediatric hypophosphatasia with pancranial synostosis, long-bone bowing, widened physes, as well as metaphyseal osteosclerosis, cupping and fraying, and ''tongues'' of radiolucency. Radiographic features of osteopetrosis included osteosclerosis and femoral Erlenmeyer flask deformity. After stopping EHDP, he improved rapidly, including remarkable skeletal healing and decreased joint calcifications. Profound, but rapidly reversible, inhibition of skeletal mineralization with paradoxical calcifications near joints can occur in GACI from protracted EHDP therapy. Although EHDP treatment is lifesaving in GACI, surveillance for toxicity is crucial. ß

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“…The mean recovery for our method was 98%. Most other published methods show similar recoveries [4,[9][10][11][12][13][15][16][17][18]27].…”

Section: Discussionmentioning

confidence: 66%

“…The intra-day CV of <2.8% and inter-day CV of <4.1% for this method are equal to [11,15,17] or better than [4,9,10,[12][13][14]18] other reported values for imprecision. The inter-day variance of the current HPLC method was 6.8% compared to 4.1% for the described LC-ESI-MS/MS method.…”

Section: Discussionmentioning

confidence: 66%

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A stable isotope dilution LC–ESI-MS/MS method for the quantification of pyridoxal-5′-phosphate in whole blood

Zelst

Jonge

2012

Journal of Chromatography B

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Use of chlorite to improve HPLC detection of pyridoxal 5′-phosphate

Cited by 25 publications

References 8 publications

“Atypical femoral fractures” during bisphosphonate exposure in adult hypophosphatasia

“Atypical femoral fractures” during bisphosphonate exposure in adult hypophosphatasia

Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy

A stable isotope dilution LC–ESI-MS/MS method for the quantification of pyridoxal-5′-phosphate in whole blood

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