Metab. 2006 89 19 31 8 Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families J. [academic.oup.com]

A summary on this disease is available in Deutsch (2020) Español (2020) Français (2020) Nederlands (2020) Italiano (2012) The documents contained in this web site are presented for information purposes only. [orpha.net]

However, the focus of the book remains clinical, describing symptoms and signs at presentation, how to come to a diagnosis and methods for treatment. As with the previous edition, the book can be used in two main ways. [books.google.com]

The usefulness of the presented method for screening of patients with ATIC deficiency is demonstrated on samples of Chinese hamster ovary cell line defective in ATIC activity, spiked urine samples and urine samples from patients treated with high-dose [ncbi.nlm.nih.gov]

• Hemophilia A

  Klippel-Trenaunay-Weber syndrome Sturge-Weber syndrome Pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis Hematologic diseases Thalassemia ATR-X syndrome Sickle cell anemia Hereditary spherocytosis Hereditary elliptocytosis Hereditary stomatocytosis Hemophilia [csirnotes.com]

  Variants(13): c.613G>A, c.2128_2130delTTC, c.1628A>C, c.1621G>T, c.2392T>C, c.1827G>A, c.1094C>T, c.1963G>A, c.255C>A, c.1722T>G, c.148C>T, c.1726C>T, c.1A>G Condition Gene/Varient Hemophilia A Gene:F8. Exons: NM_000132.3:1-26. [medgen.com.pk]

• Lymphedema

  […] component defects Mannose-binding lectin pathway component defects Complement regulatory protein defects Other well-defined immunodeficiency syndromes Autoimmune lymphoproliferative syndromes Familial hemophagocyic lymphohistiocytosis Osteoporosis, lymphedema [csirnotes.com]

  […] q13 Angelman syndrome due to maternal 15q11q13 deletion Angelman syndrome due to paternal uniparental disomy of chromosome 15 Angioosteohypertrophic syndrome Angioosteohypotrophic syndrome Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema [se-atlas.de]

  Rieger or Axenfeld anomalies, 602482 (3) FOXC2 G:602402 +GR-Bell Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400 (3) FOXC2 G:602402 +GR-Bell Lymphedema-distichiasis syndrome, 153400 (3) FOXD1 G:601091. . [usegalaxy.org]

• Amyloidosis

  Neurodegeneration with brain iron accumulation (NBIA) Infantile progressive bulbar palsy Agenesis of the corpus callosum with peripheral neuropathy (ACCPN) Band-like calcification with simplified gyration and polymicrogyria (BLC-PMG) Perry syndrome Familial amyloidosis [csirnotes.com]

  Identification of transthyretin cardiac amyloidosis using serum retinol-binding protein 4 and a clinical prediction model. JAMA Cardiol. 2, 305–313 (2017). Article PubMed PubMed Central Google Scholar Hauser, P. S., Narayanaswami, V. & Ryan, R. O. [nature.com]

  Amyloidosis, Finnish type, 105120 (3) GSPT1 G:139259. . GSPT2 G:300418. . GSR GP:138300. . [usegalaxy.org]

Management and treatment Management is multidisciplinary. There is no preventive, curative, or specific treatment to date. [orpha.net]

Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout. [books.google.com]

Conclusion: Pharmacogenetic and metabolite measurements may be useful in optimising MTX treatment. [typeset.io]

Combination of FBPase inhibitors and antidiabetic agents useful for the treatment of diabetes WO2002003978A3 ( en ) * 2000-07-06 2003-10-16 Metabasis Therapeutics Inc A COMBINATION OF FBPase INHIBITORS AND ANTIDIABETIC AGENTS USEFUL FOR THE TREATMENT [google.co.in]

Prognosis To date all individuals affected by AICA-ribosiduria require extensive support. Life expectancy is unknown (oldest individual is 20 years of age). [orpha.net]

Etiology AICA-ribosiduria is caused by germline defects in the ATIC gene (2q35). The pathogenesis seems to involve a cytotoxic effect of abnormally accumulated substrates of ATIC enzyme: AICAR and AICA-riboside. [orpha.net]

[…] data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive Epidemiological data: Class of prevalence: Average age onset: neonatal/infancy Average age of death: - Type of inheritance [csbg.cnb.csic.es]

Summary Epidemiology To date only 4 affected individuals from 3 independent families have been reported worldwide. Clinical description There are no specific fetal abnormalities. [orpha.net]

Relevant External Links for ATIC Genetic Association Database (GAD) ATIC Human Genome Epidemiology (HuGE) Navigator ATIC Atlas of Genetics and Cytogenetics in Oncology and Haematology: ATIC No data available for Genatlas for ATIC Gene Characterization [genecards.org]

Weiss Indiana University, Epidemiology, Indianapolis, Indiana, 46202, US Jennifer Wessel Henry Ford Health System, Detroit, Michigan, 48202, US L. [nature.com]

Table 1 Ancestry-specific mQTLs in the Jackson Heart Study Full size table As an example, The TTR variant (V122I) is present in 3–4% of Black individuals and has been implicated in the pathophysiology of heart failure in the elderly, often unrecognized [nature.com]

This helps avoid repeated freeze-thaw cycles, as well as prevent loss of virus. To maintain accurate titer, aliquot in at least 20ul per tube. [vectorbiolabs.com]

[…] leading to blood platelet aggregation, whether during the phases of activation and shape change or following the dense-granule release reaction and stimulation of the prostaglandin-thromboxane system. antineoplastic agent A substance that inhibits or prevents [ebi.ac.uk]

There is no preventive, curative, or specific treatment to date. Epilepsy should be sought, and when present should be treated by an experienced neuropediatrician according to the standard protocols. It may become pharmacoresistant. [orpha.net]

Similar to other two known DNPS defects-adenylosuccinate lyase deficiency and AICA-ribosiduria-the PAICS mutation prevented purinosome formation in the patient's skin fibroblasts, and this phenotype was corrected by transfection with the wild-type but [institutimagine.org]