Purine nucleoside phosphorylase deficiency
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop in Atlas of Inherited Metabolic Diseases, 2020
Definitive treatment can be achieved by means of bone marrow transplantation. Transfusion therapy was developed in the management of patients with adenosine deaminase deficiency [34]. In PNP, deficiency transfusion therapy has variously been reported to produce partial improvement or no improvement in immune function [35–38]. In an extensive experience with 100 weeks of erythrocyte transfusion therapy in a boy with PNP deficiency, there was a correction of the elevated level of dGTP in erythrocytes and leukocytes, as well as a substantial increase in serum concentrations of urate and decrease in urinary nucleoside content [7]. The immunologic abnormality was partially reversed. However, the overall results of therapy in this disease have been much less effective than in adenosine deaminase deficiency [39].
The Severe Combined Immunodeficiency (scid) Mutation, Chromosome 16
John P. Sundberg in Handbook of Mouse Mutations with Skin and Hair Abnormalities, 2020
Severe combined immunodeficiency occurs in humans as an autosomal recessive trait3,4 or X-linked characteristic4 that is clinically very similar to the mouse scid mutation. Recently, Schwartz et al.19 described five human patients with impaired rearrangement processes at the JH region analogous to the defect in scid/scid mice. Human severe combined immune deficiency may also be associated with a deficiency of adenosine deaminase.2,3 As with scid/scidmice, if human patients are not protected from environmental pathogens, they will die as a result of bacterial, viral, and/or mycotic infections.20
Microbiological Diagnosis of Tuberculosis
Nancy Khardori in Bench to Bedside, 2018
Adenosine deaminase enzyme changes adenosine to inosine, and also deoxyadenosine to deoxyinosine in purine catabolism pathway, and thus catalyses irreversible deamination. ADA also has a role in proliferation along with differentiation of T-lymphocytes (Baganha et al. 1990). For pleural fluid, meta-analysis studies estimated that the sensitivity and specificity of an increased Adenosine deaminase (ADA) level in the pleural fluid are 89-99 percent and 88-97 percent, respectively. Thresholds which have been used to characterize an elevated ADA level ranged from 10 U/L to 71 U/L, with the majority clustering around 40 U/L (Morisson and Neves 2008, Liang et al. 2008, Greco et al. 2003, Goto et al. 2003). The pleural fluid ADA levels in pleural effusion due to tuberculosis are considerably higher in comparison to transudates (Chander and Shrestha 2012). For pericardial fluid, meta-analysis studies have estimated that the sensitivity and specificity of an increased Adenosine deaminase (ADA) level in pericardial fluid are 88 percent and 83 percent, respectively (Tuon et al. 2006). The threshold which has been used to characterize an elevated ADA level is 40 U/L. For peritoneal fluid, meta-analysis studies estimated that the sensitivity and specificity of an increased Adenosine deaminase (ADA) levels are 100 percent and 97 percent, respectively (Riquelme et al. 2006). Thresholds which were used to characterize an elevated ADA level ranged from 36 U/L to 40 U/L. Adenosine deaminase (ADA) levels should be measured, on fluid samples collected from patients with suspected pleural tuberculosis, tubercular meningitis, peritoneal tuberculosis, or pericardial tuberculosis.
Shaddock (Citrus maxima) peels extract restores cognitive function, cholinergic and purinergic enzyme systems in scopolamine-induced amnesic rats
Published in Drug and Chemical Toxicology, 2022
Ayokunle O. Ademosun, Adeniyi A. Adebayo, Temitope V. Popoola, Ganiyu Oboh
Adenosine deaminase (ADA) catalyzes the irreversible removal of amine group from adenosine to form inosine. In the purinergic system, ADA serves as an important point of regulation of adenosine level, a purine nucleoside that mediates diverse physiological conditions. Adenosine has been reported to play a neuromodulatory role in the CNS in mammals (Burnstock 2006, Burnstock et al.2011). In this study, it was observed that scopolamine administration increased the activity of ADA, and this effect was prevented by treatment with shaddock peels extract or donepezil. An increase in ADA activity increases the hydrolysis of adenosine to inosine. Thus, the effect of scopolamine on this enzyme leads to increased removal of extracellular adenosine decreasing its levels, which may lead to impairment of the adenosinergic neurotransmission. The depletion of extracellular adenosine can disrupt memory formation since adenosine has been reported as an important neuromodulator in synaptic plasticity (Burnstock et al.2011, Costa et al.2015, Akinyemi et al.2017). The decrease in ADA activity observed in the shaddock peel extract-treated group as shown in Figure 5 suggests possible mechanisms governing shaddock peel extract or donepezil action on cognitive function. This inhibitory effect on brain ADA activity would have a direct or indirect influence on the prevention of adenosine degradation in the CNS.
Dipeptidyl peptidase-4 and adenosine deaminase enzyme levels in polycystic ovary syndrome
Published in Gynecological Endocrinology, 2019
Bahadır Öztürk, Ali Sami Gürbüz, Zahide Esra Durak, Hasan Serdar Öztürk
Glucagon-like peptide-1 (GLP-1), an incretin hormone [6,7], promotes insulin secretion [8], inhibits glucagon secretion [9], suppresses appetite [10] and gastric motility [11]. Incretins are necessary for the preservation of normal blood glucose concentrations [12]. However, because GLP-1 is quickly degraded by dipeptidyl peptidase-4 (DPP-4); DPP-4 inhibitor drugs and GLP-1 analogs have been developed for the treatment of diabetes mellitus [13]. DPP-4, also known as adenosine deaminase binding protein or CD26, is a multifunctional cellular surface glycoprotein which interacts with adenosine deaminase (ADA) and also circulates in plasma [14]. Many studies have reported an increase in ADA activity in type 2 diabetic patients [15–17]. Thus, high ADA activity in insulin-sensitive tissues reduces the level of adenosine that increases glucose uptake into the cells [18]. DPP-4 bound adenosine deaminase has been shown to catalyze the reaction that changes extracellular adenosine to inosine. DPP-4 inhibitors increase adenosine levels by preventing the complex formation [19]. If ADA activity is suppressed, insulin sensitivity may be improved. Therefore, IR may have a significant connection with ADA activity. However, it is difficult to conclude whether changes in ADA activity are the cause or result of actual IR [20,21].
Pearson syndrome
Published in Expert Review of Hematology, 2018
Piero Farruggia, Floriana Di Marco, Carlo Dufour
Pregnancy and birth are usually normal.Anemia, usually found at the first blood count, is generally transfusion dependent in the early months of life but transfusion independence is highly frequent at under 3 years of age.High levels of adenosine deaminase are found in about 1/2 of the PS patients.Throughout the course of the disease more than 1/2 of patients develop neurological and neuromuscular disorders.The prognosis remains poor.