Perinatal Lethal Hypophosphatasia

mutation in tissue-nonspecific alkaline phosphatase

Also Known As:

Hypophosphatasia, Perinatal Lethal

Networked: 6 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
        Perinatal Lethal Hypophosphatasia: 6
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Metal Metabolism
      - Hypophosphatasia: 737
        Perinatal Lethal Hypophosphatasia: 6

Related Diseases

1.	Hypophosphatasia

Experts

1.	Akiyama, Tomoyuki: 1 article (09/2019)
2.	Hayakawa, Masahiro: 1 article (09/2019)
3.	Ishiguro, Tomonori: 1 article (09/2019)
4.	Kotani, Tomomi: 1 article (09/2019)
5.	Michigami, Toshimi: 1 article (09/2019)
6.	Muramatsu, Yukako: 1 article (09/2019)
7.	Sugiyama, Yuichiro: 1 article (09/2019)
8.	Tachikawa, Kanako: 1 article (09/2019)
9.	Tsuda, Hiroyuki: 1 article (09/2019)
10.	Ueda, Kazuto: 1 article (09/2019)

Drugs and Biologics

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

1.	N- (4'- fluorobutyrophenone)- 4- (4- chlorophenyl)pyridinium (HPP(+))IBA 03/01/2016 - "With this strategy, we were able to demonstrate the diagnosis at a molecular level, which turned out to be perinatal lethal hypophosphatasia (HPP). " 11/01/2023 - "Although perinatal lethal hypophosphatasia (HPP) was once a disease with a universally poor prognosis, it has now become a rare but treatable condition with the advent of enzyme replacement therapy with asfotase alfa. "
2.	Vitamin B 6IBA 09/01/2019 - "Findings of amplitude-integrated electroencephalogram recordings and serum vitamin B6 metabolites in perinatal lethal hypophosphatasia during enzyme replacement therapy."
3.	Phosphates (Orthophosphate)IBA 12/01/1997 - "Nondecalcified autopsy bone and growth plate cartilage from five patients with perinatal (lethal) hypophosphatasia were studied by nondecalcified light and electron microscopy to assess MV numbers, size, shape, and ultrastructure and whether hypophosphatasia MVs contain apatite-like mineral, as would be the case if these MVs retained their ability to concentrate calcium and phosphate internally despite a paucity of TNSALP in their investing membranes. "
4.	MineralsIBA 12/01/1997 - "Nondecalcified autopsy bone and growth plate cartilage from five patients with perinatal (lethal) hypophosphatasia were studied by nondecalcified light and electron microscopy to assess MV numbers, size, shape, and ultrastructure and whether hypophosphatasia MVs contain apatite-like mineral, as would be the case if these MVs retained their ability to concentrate calcium and phosphate internally despite a paucity of TNSALP in their investing membranes. "
5.	CalciumIBA 12/01/1997 - "Nondecalcified autopsy bone and growth plate cartilage from five patients with perinatal (lethal) hypophosphatasia were studied by nondecalcified light and electron microscopy to assess MV numbers, size, shape, and ultrastructure and whether hypophosphatasia MVs contain apatite-like mineral, as would be the case if these MVs retained their ability to concentrate calcium and phosphate internally despite a paucity of TNSALP in their investing membranes. "
6.	ApatitesIBA 12/01/1997 - "Nondecalcified autopsy bone and growth plate cartilage from five patients with perinatal (lethal) hypophosphatasia were studied by nondecalcified light and electron microscopy to assess MV numbers, size, shape, and ultrastructure and whether hypophosphatasia MVs contain apatite-like mineral, as would be the case if these MVs retained their ability to concentrate calcium and phosphate internally despite a paucity of TNSALP in their investing membranes. "
7.	Alkaline PhosphataseIBA 10/15/2001 - "We report on a postmortem diagnosis of perinatal lethal hypophosphatasia, an inborn error of metabolism characterized by a liver/bone/kidney alkaline phosphatase (ALP)-related defective bone mineralization due to mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. "
8.	asfotase alfaIBA 11/01/2023 - "Although perinatal lethal hypophosphatasia (HPP) was once a disease with a universally poor prognosis, it has now become a rare but treatable condition with the advent of enzyme replacement therapy with asfotase alfa. "

Therapies and Procedures

Enzyme Replacement Therapy

09/01/2012 - "Respiratory mechanics in an infant with perinatal lethal hypophosphatasia treated with human recombinant enzyme replacement therapy."
09/01/2019 - "Findings of amplitude-integrated electroencephalogram recordings and serum vitamin B6 metabolites in perinatal lethal hypophosphatasia during enzyme replacement therapy."
11/01/2023 - "Although perinatal lethal hypophosphatasia (HPP) was once a disease with a universally poor prognosis, it has now become a rare but treatable condition with the advent of enzyme replacement therapy with asfotase alfa. "