Persistent idiopathic hyperphosphatasemia from bone alkaline phosphatase in a healthy boy

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Persistent idiopathic hyperphosphatasemia from bone alkaline phosphatase in a healthy boy

Whyte, Michael P. (author): Shriners Hosp Children, MO 63110 USA; Washington Univ, MO 63110 USA

Ma, Nina S. (author): Harvard Med Sch, MA 02115 USA; Univ Colorado, CO 80045 USA

Mumm, Steven (author): Shriners Hosp Children, MO 63110 USA; Washington Univ, MO 63110 USA

Gottesman, Gary S. (author): Shriners Hosp Children, MO 63110 USA

McAlister, William H. (author): Washington Univ, MO 63110 USA

Nenninger, Angela R. (author): Shriners Hosp Children, MO 63110 USA

Bijanki, Vinieth N. (author): Shriners Hosp Children, MO 63110 USA

Ericson, Karen L. (author): Purdue Univ Ft Wayne, IN 46805 USA

Magnusson, Per (author): Linköpings universitet,Avdelningen för klinisk kemi,Medicinska fakulteten,Region Östergötland, Klinisk kemi

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ELSEVIER SCIENCE INC, 2020
2020
English.
In: Bone. - : ELSEVIER SCIENCE INC. - 8756-3282 .- 1873-2763. ; 138

Related links:: https://urn.kb.se/re...; show more...; https://doi.org/10.1...; show less...

Journal article (peer-reviewed)

Abstract Subject headings

Alkaline phosphatase (ALP) in humans comprises a family of four cell-surface phosphomonoester phosphohydrolase isozymes. Three genes separately encode the "tissue-specific" ALPs whereas the fourth gene encodes ubiquitous homodimeric "tissue-nonspecific" ALP (TNSALP) richly expressed in bone, liver, kidney, and developing teeth. TNSALP monomers have five putative N-linked glycosylation sites where different post-translational modifications account for this isozymes distinctive physicochemical properties in different organs. Three bone-derived TNSALP (BALP) isoforms (B/I, B1, and B2) are present in healthy serum, whereas a fourth BALP isoform (Blx) can circulate in chronic kidney disease. Herein, we report a healthy boy with persistent hyperphosphatasemia due to BALP levels two- to threefold higher than age-appropriate reference values. Highperformance liquid chromatography, electrophoresis, heat inactivation, catalysis inhibition, and polyethylene glycol precipitation revealed increased serum B/I, B1, and B2 differing from patterns found in skeletal diseases. BA was similar to 23-fold elevated. Absence of mental retardation and physical stigmata excluded Mabry syndrome, the ALP-anchoring disorder causing hyperphosphatasemia. Routine biochemical studies indicated intact mineral homeostasis. Serum N-terminal propeptide of type I procollagen (P1NP) level was normal, but C-terminal crosslinking telopeptide of type I collagen (CTX) level was elevated. However, radiological studies showed no evidence for a generalized skeletal disturbance. Circulating pyridoxal 5-phosphate, a TNSALP natural substrate, was not low despite the laboratory hyperphosphatasemia, thereby suggesting BALP phosphohydrolase activity was not elevated endogenously. Mutation analysis of the ALPL gene encoding TNSALP revealed no defect. His non-consanguineous healthy parents had serum total ALP activity and BALP protein levels that were normal. Our patients sporadic idiopathic hyperphosphatasemia could reflect altered post-translational modification together with increased expression and/or impaired degradation of BALP.

Subject headings

NATURVETENSKAP -- Biologi -- Biokemi och molekylärbiologi (hsv//swe)
NATURAL SCIENCES -- Biological Sciences -- Biochemistry and Molecular Biology (hsv//eng)

Keyword

ALPL gene; Bone; Enzymopathy; Hypophosphatasia; Isoenzyme; Isoform; Isozyme; Mabry syndrome; Osteoblast; Phosphohydrolase; Pyridoxal 5 -phosphate; Skeleton; Vitamin B-6

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By the author/editor: Whyte, Michael P ...; Ma, Nina S.; Mumm, Steven; Gottesman, Gary ...; McAlister, Willi ...; Nenninger, Angel ...; show more...; Bijanki, Vinieth ...; Ericson, Karen L ...; Magnusson, Per; show less...

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NATURAL SCIENCES: NATURAL SCIENCES; and Biological Scien ...; and Biochemistry and ...

Articles in the publication: Bone

By the university: Linköping University

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