Ciba Found Symp. 1978;(68):255-62.

Purine metabolism in adenosine deaminase deficiency.

Simmonds HA, Sahota A, Potter CF, Perrett D, Hugh-Jones K, Watson JG.

Abstract

Deoxyadenosine was identified in the urine of a second child with almost undetectable levels of adenosine deaminase (ADA) in erythrocyte lysates. Deoxyadenosine excretion thus appears to be characteristic of ADA deficiency: the acid lability of deoxyadenosine (responsible for the frequent confusion of this abnormal urinary metabolite with adenine) may be used in screening for this defect by isotachophoresis. The deoxynucleotides dATP, dADP and dAMP found initially in the child's erythrocytes (in comparable amounts to ATP, ADP and AMP) disappeared after a successful marrow graft from an unrelated donor, as did the urinary deoxy metabolites. Erythrocyte ADA activity decreased after the marrow graft but was still greater than 10% of normal congruent to 10 weeks after the last red cell transfusion.

PMID:: 387357; [PubMed - indexed for MEDLINE]

LinkOut - more resources

Other Literature Sources

Supplemental Content

Save items

Related citations in PubMed

Overproduction of adenine deoxynucleosides and deoxynucletides in adenosine deaminase deficiency with severe combined immunodeficiency disease. [J Clin Invest. 1978]
Overproduction of adenine deoxynucleosides and deoxynucletides in adenosine deaminase deficiency with severe combined immunodeficiency disease.
Donofrio J, Coleman MS, Hutton JJ, Daoud A, Lampkin B, Dyminski J. J Clin Invest. 1978 Oct; 62(4):884-7.
Bone marrow transplantation only partially restores purine metabolites to normal in adenosine deaminase-deficient patients. [J Clin Invest. 1981]
Bone marrow transplantation only partially restores purine metabolites to normal in adenosine deaminase-deficient patients.
Hirschhorn R, Roegner-Maniscalco V, Kuritsky L, Rosen FS. J Clin Invest. 1981 Dec; 68(6):1387-93.
Formation and degradation of deoxyadenosine nucleotides in inherited adenosine deaminase deficiency. [Biosci Rep. 1982]
Formation and degradation of deoxyadenosine nucleotides in inherited adenosine deaminase deficiency.
Simmonds HA, Webster DR, Perrett D, Reiter S, Levinsky RJ. Biosci Rep. 1982 May; 2(5):303-14.
Review Therapy in adenosine deaminase and purine nucleoside phosphorylase deficient patients. [Clin Biochem. 1983]
Review Therapy in adenosine deaminase and purine nucleoside phosphorylase deficient patients.
Zegers BJ, Stoop JW. Clin Biochem. 1983 Feb; 16(1):43-7.
Review Enzyme replacement and other biochemical approaches to the therapy of adenosine deaminase deficiency. [Ciba Found Symp. 1978]
Review Enzyme replacement and other biochemical approaches to the therapy of adenosine deaminase deficiency.
Polmar SH. Ciba Found Symp. 1978; (68):213-30.

See reviews... See all...

Cited by 1 PubMed Central article

Heterogeneity of biochemical, clinical and immunological parameters in severe combined immunodeficiency due to adenosine deaminase deficiency. [Clin Exp Immunol. 1987]
Heterogeneity of biochemical, clinical and immunological parameters in severe combined immunodeficiency due to adenosine deaminase deficiency.
Morgan G, Levinsky RJ, Hugh-Jones K, Fairbanks LD, Morris GS, Simmonds HA. Clin Exp Immunol. 1987 Dec; 70(3):491-9.

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Compound
PubChem chemical compound records that cite the current articles. These references are taken from those provided on submitted PubChem chemical substance records. Multiple substance records may contribute to the PubChem compound record.
Compound (MeSH Keyword)
PubChem chemical compound records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Substance
PubChem chemical substance records that cite the current articles. These references are taken from those provided on submitted PubChem chemical substance records.
Substance (MeSH Keyword)
PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Purine metabolism in adenosine deaminase deficiency.
Purine metabolism in adenosine deaminase deficiency.
Ciba Found Symp. 1978 ;(68):255-62.

PubMed
Studies on complications of diverticular disease of the colon.
Studies on complications of diverticular disease of the colon.
Jpn J Med. 1985 Feb ;24(1):39-43.

PubMed
[Literature and schizophrenia. Research trends and research tasks].
[Literature and schizophrenia. Research trends and research tasks].
Confin Psychiatr. 1979 ;22(3):160-75.

PubMed
Interleukin 1-like factors can accumulate 5-hydroxytryptamine in the liver of mi...
Interleukin 1-like factors can accumulate 5-hydroxytryptamine in the liver of mice and can induce hypoglycaemia.
Biochim Biophys Acta. 1985 May 29 ;840(1):37-42.

PubMed
Silicone implant arthroplasty of the great toe. A review of single stem and flex...
Silicone implant arthroplasty of the great toe. A review of single stem and flexible hinge implants.
Clin Orthop Relat Res. 1979 Jul-Aug ;(142):30-43.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to:

Purine metabolism in adenosine deaminase deficiency.

Abstract

Publication Types, MeSH Terms, Substances

Publication Types

MeSH Terms

Substances

LinkOut - more resources

Other Literature Sources

Supplemental Content

Save items

Related citations in PubMed

Cited by 1 PubMed Central article

Related information

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information