Serum Alkaline Phosphatase, Serum Pyrophosphatase, Phosphorylethanolamine and Inorganic Pyrophosphate in Plasma and Urine

2015 ◽  
pp. 66-69 ◽  
Author(s):  
S. A. S�rensen ◽  
H. Flodgaard ◽  
E. S�rensen
Keyword(s):  
Alkaline Phosphatase ◽  
Serum Alkaline Phosphatase ◽  
Inorganic Pyrophosphate

scholarly journals Hypophosphatasia

2021 ◽  
Vol 10 (23) ◽  
pp. 5676
Author(s):  
Symeon Tournis ◽  
Maria P. Yavropoulou ◽  
Stergios A. Polyzos ◽  
Artemis Doulgeraki
Keyword(s):  
Alkaline Phosphatase ◽  
Autosomal Dominant ◽  
Serum Alkaline Phosphatase ◽  
Severe Disease ◽  
Loss Of Function ◽  
Inorganic Pyrophosphate ◽  
Live Births ◽  
Enzyme Replacement ◽  
Asfotase Alfa ◽  
Reduced Activity

Hypophosphatasia (HPP) is an inherited metabolic disease caused by loss-of-function mutations in the tissue non-specific alkaline phosphatase (TNAP) gene. Reduced activity of TNAP leads to the accumulation of its substrates, mainly inorganic pyrophosphate and pyridoxal-5΄-phosphate, metabolic aberrations that largely explain the musculoskeletal and systemic features of the disease. More than 400 ALPL mutations, mostly missense, are reported to date, transmitted by either autosomal dominant or recessive mode. Severe disease is rare, with incidence ranging from 1:100,000 to 1:300,000 live births, while the estimated prevalence of the less severe adult form is estimated to be between 1:3100 to 1:508, in different countries in Europe. Presentation largely varies, ranging from death in utero to asymptomatic adults. In infants and children, clinical features include skeletal, respiratory and neurologic complications, while recurrent, poorly healing fractures, muscle weakness and arthropathy are common in adults. Persistently low serum alkaline phosphatase is the cardinal biochemical feature of the disease. Management requires a dedicated multidisciplinary team. In mild cases, treatment is usually symptomatic. Severe cases, with life-threating or debilitating complications, can be successfully treated with enzyme replacement therapy with asfotase alfa.

Hypophosphatasia: diagnostic application of linked DNA markers in the dominantly inherited adult form

1999 ◽  
Vol 97 (1) ◽  
pp. 73-78 ◽  
Author(s):  
S. J. IQBAL ◽  
D. S. PLAHA ◽  
G. H. LINFORTH ◽  
R. DALGLEISH
Keyword(s):  
Alkaline Phosphatase ◽  
Dna Analysis ◽  
Serum Alkaline Phosphatase ◽  
Chorionic Villus ◽  
Rflp Analysis ◽  
Serum Levels ◽  
Clinical Findings ◽  
Screening Methods ◽  
Inorganic Pyrophosphate ◽  
Low Serum

Hypophosphatasia is a rare disease characterized by low serum levels of tissue non-specific alkaline phosphatase (TNSALP) and a spectrum of skeletal disease varying from the severest form with death in utero to mild with no clinical abnormality in adults. Currently, the diagnosis of hypophosphatasia is made on the basis of clinical findings, radiography, low serum alkaline phosphatase levels and raised abnormal phosphorylated metabolites; there are elevations in serum pyridoxal 5′-phosphate, urinary phosphoethanolamine and inorganic pyrophosphate. In borderline cases the biochemical diagnosis remains uncertain. Prenatally, diagnosis is made using radiography and ultrasonography together with chorionic villus tissue biopsy, in which TNSALP levels are measured using an antibody-based assay. Since hypophosphatasia results from mutations in the TNSALP gene we have, for the first time in two U.K. families, undertaken restriction fragment length polymorphism (RFLP) analysis using three intragenic RFLPs for BclI and MspI at the ALPL locus. One family was informative, and a mutant-allele-specific haplotype with respect to three RFLPs was defined. In the other family the disease was shown to segregate with one allele of the BclI RFLP, but the MspI RFLPs were not informative. The disease segregated in the two families with different alleles of the BclI RFLP, suggesting that the mutations are likely to be different. We confirm that DNA analysis is likely to be the way ahead for diagnosing hypophosphatasia, and that standardized screening methods need to be developed for detecting mutations in these and other families.

The Origin of Elevation of Serum Alkaline Phosphatase in Hepatic Disease

1962 ◽  
Vol 42 (4) ◽  
pp. 431-438 ◽  
Author(s):  
Stanton G. Polin ◽  
Mitchell A. Spellberg ◽  
Lloyd Teitelman ◽  
Makoto Okumura
Keyword(s):  
Alkaline Phosphatase ◽  
Serum Alkaline Phosphatase ◽  
Hepatic Disease

SUBACUTE THYROIDITIS WITH ELEVATED SERUM ALKALINE PHOSPHATASE LEVEL

1960 ◽  
Vol XXXIV (II) ◽  
pp. 256-260
Author(s):  
Jörgen Herman Vogt
Keyword(s):  
Alkaline Phosphatase ◽  
Alkaline Phosphatase Level ◽  
Serum Alkaline Phosphatase ◽  
Thyroid Tissue ◽  
Elevated Serum ◽  
Subacute Thyroiditis ◽  
Serum Alkaline Phosphatase Level ◽  
Transient Rise

ABSTRACT A case of subacute thyroiditis is recorded, in which a transient rise in serum alkaline phosphatase values leads to the hypothesis of a transient parathyroid hyper-activity induced by the inflammation of the thyroid tissue in which the parathyroid may be embedded.

The validity of serum alkaline phosphatase to identify nutritional rickets in Nigerian children on a calcium-deprived diet

2019 ◽  
Author(s):  
Tom Thacher ◽  
Christopher Sempos ◽  
Ramon Durazo-Arvizu ◽  
Craig Munns ◽  
Philip Fischer ◽  
...  
Keyword(s):  
Alkaline Phosphatase ◽  
Serum Alkaline Phosphatase ◽  
Nigerian Children ◽  
Nutritional Rickets

Paget’s disease: clinical update

2011 ◽  
Vol 152 (33) ◽  
pp. 1337-1346
Author(s):  
Judit Donáth ◽  
Gyula Poór
Keyword(s):  
Alkaline Phosphatase ◽  
Serum Alkaline Phosphatase ◽  
Paget’S Disease ◽  
Paget's Disease ◽  
Etiologic Role ◽  
Osteoblast Activity ◽  
Chronic Disorder ◽  
Abnormal Increase ◽  
Osteoclast Function ◽  
High Level

Paget’s disease is a chronic disorder of bone remodeling, characterized by an abnormal increase of osteoclast and, hence, osteoblast activity. The imbalance of bone turnover results in the formation of unhealthy and fragile bone. It also leads to impairment of adjacent joints and to a risk of various complications. Current research focuses on the elucidation of the etiologic role viral infection and predisposing genetic factors. Paget’s disease is commonly discovered by chance; its suspicion is raised either by high level of alkaline phosphatase or by the X-ray of the pathological bone. Bisphosphonates have proven to be effective in controlling disease activity because they inhibit osteoclast function. Their use is recommended when bone-derived serum alkaline phosphatase is high and/or when disease localizations are highly suspected for the development of complications. Orv. Hetil., 2011, 152, 1337–1346.

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