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Childhood Hypophosphatasia

Also Known As:

Hypophosphatasia, Childhood

Networked: 8 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Metal Metabolism
      - Hypophosphatasia: 737
        Childhood Hypophosphatasia: 8
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Metal Metabolism
      - Hypophosphatasia: 737
        Childhood Hypophosphatasia: 8

Related Diseases

1.	Funnel Chest (Pectus Excavatum)

Experts

1.	Adler, B H: 2 articles (01/2018 - 01/2018)
2.	Bowden, S A: 2 articles (01/2018 - 01/2018)
3.	Shin, Y S: 2 articles (06/2006 - 11/2002)
4.	Guebelin, Anic: 1 article (02/2022)
5.	Held, Corinna Melanie: 1 article (02/2022)
6.	Krebs, Andreas: 1 article (02/2022)
7.	Lausch, Ekkehart: 1 article (02/2022)
8.	Sass, Jörn Oliver: 1 article (02/2022)
9.	Schwab, Karl Otfried: 1 article (02/2022)
10.	Wurm, Michael: 1 article (02/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Childhood Hypophosphatasia:

1.	Alkaline PhosphataseIBA 04/01/2005 - "Childhood hypophosphatasia due to a de novo missense mutation in the tissue-nonspecific alkaline phosphatase gene." 11/01/2002 - "G317D mutation in the tissue-nonspecific alkaline phosphatase gene associated with childhood hypophosphatasia in a German family." 07/01/1998 - "We report the characterisation of tissue-nonspecific alkaline phosphatase (TNSALP) gene mutations in a series of 13 European families affected by perinatal, infantile or childhood hypophosphatasia. " 04/01/2005 - "We report here a patient with childhood hypophosphatasia diagnosed at 1.4 yr because of pectus excavatum, large anterior fontanel, rachitic skeletal changes, and low serum alkaline phosphatase. " 09/01/1999 - "Childhood hypophosphatasia (HP) is an inborn error of bone metabolism, characterized by a reduced tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). "
2.	asfotase alfaIBA 01/01/2018 - "Reappearance of hypomineralized bone after discontinuation of asfotase alfa treatment for severe childhood hypophosphatasia." 01/01/2018 - "Asfotase alfa treatment for 1 year in a 16 year-old male with severe childhood hypophosphatasia." 01/01/2018 - "We describe the clinical outcome of asfotase alfa therapy in a 16-year-old boy with severe childhood hypophosphatasia (HPP), who began therapy at age 15 years. "
3.	N- (4'- fluorobutyrophenone)- 4- (4- chlorophenyl)pyridinium (HPP(+))IBA 02/23/2022 - "Patients with childhood hypophosphatasia (HPP) often have unspecific symptoms. " 01/01/2018 - "We describe the clinical outcome of asfotase alfa therapy in a 16-year-old boy with severe childhood hypophosphatasia (HPP), who began therapy at age 15 years. "
4.	IsoenzymesIBA 09/01/1999 - "Childhood hypophosphatasia (HP) is an inborn error of bone metabolism, characterized by a reduced tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). "
5.	Non-Steroidal Anti-Inflammatory Agents (NSAIDs)IBA 06/28/2006 - "Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia."

Therapies and Procedures

1.	Therapeutics 01/01/2018 - "We describe the clinical outcome of asfotase alfa therapy in a 16-year-old boy with severe childhood hypophosphatasia (HPP), who began therapy at age 15 years. "