Presentation
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]
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]
Presentation on theme: "AICA-Ribosiduria: A Novel, Neurologically Devastating Inborn Error of Purine Biosynthesis Caused by Mutation of ATIC Sandrine Marie, Bénédicte Heron,"— Presentation transcript: 1 AICA-Ribosiduria: A Novel, Neurologically Devastating [slideplayer.com]
Entire Body System
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Camping
INTRODUCTION Purine nucleotides are essential components of a number of vital biomolecules, such as nucleic acids, coenzymes (NAD, NADP, FAD and coenzyme A), signaling molecules [e.g. cyclic adenosine monophosphate (cAMP)] and chemical energy transfer [academic.oup.com]
CAMP G:600474. . CAMSAP1 G:613774. . CAMSAP2 G:613775. . CAMSAP3 G:612685. . CAMTA1 G:611501. . CAMTA2 G:611508. . CAND1 G:607727. . CAND2 G:610403. . CANDN1 P:607644. . CANT1 G:613165. Desbuquois dysplasia, 251450 (3) CANX G:114217. . [usegalaxy.org]
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Fatigue
[…] references: 1 OMIM reference - No MeSH references External references: 1 OMIM reference - No MeSH references Pyogenic arthritis - pyoderma gangrenosum - acne Very frequent - Acne / acnea - Arthritis / synovitis / synovial proliferation - Asthenia / fatigue [csbg.cnb.csic.es]
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Chills
[…] arthritis - pyoderma gangrenosum - acne Very frequent - Acne / acnea - Arthritis / synovitis / synovial proliferation - Asthenia / fatigue / weakness - Autosomal dominant inheritance - Chronic skin infection / ulcerations / ulcers / cancrum - Fever / chilling [csbg.cnb.csic.es]
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Lymphadenopathy
[…] weakness - Autosomal dominant inheritance - Chronic skin infection / ulcerations / ulcers / cancrum - Fever / chilling - Pustula / pustulosis - Restricted joint mobility / joint stiffness / ankylosis Frequent - Articular / joint pain / arthralgia - Lymphadenopathy [csbg.cnb.csic.es]
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Chronic Infection
{Chronic infections, due to MBL deficiency}, 614372 (3) MBNL1 G:606516. . MBNL2 G:607327. . MBNL3 G:300413. . MBOAT1 G:611732. . MBOAT2 G:611949. . MBOAT4 G:611940. . MBOAT7 G:606048. . MBP G:159430. . MBS1 P:157900. . MBS2 P:601471. . [usegalaxy.org]
Skin
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Ulcer
[…] reference - No MeSH references Pyogenic arthritis - pyoderma gangrenosum - acne Very frequent - Acne / acnea - Arthritis / synovitis / synovial proliferation - Asthenia / fatigue / weakness - Autosomal dominant inheritance - Chronic skin infection / ulcerations [csbg.cnb.csic.es]
[…] and nail dystrophy (TIDAND) Pyogenic bacterial infections, recurrent, due to MYD88 deficiency Immune thrombocytopenia (ITP) Activated PI3K-delta syndrome (APDS) Wiskott-Aldrich syndrome DiGeorge syndrome Other immune system diseases Crohn’s disease Ulcerative [csirnotes.com]
{Buruli ulcer, susceptibility to}, 610446 (3) SLC11A1 G:600266. {Mycobacterium tuberculosis, susceptibility to infection by}, 607948 (3) SLC11A2 G:600523. [usegalaxy.org]
Ears
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Low Set Ears
Affiliated tissues include skin, testes and eye, and related phenotypes are low-set ears and seizures [malacards.org]
Dysarthria Ptosis Hearing impairment Carious teeth Photophobia Headache Cryptorchidism Rod-cone dystrophy Anemia Cataract Wide mouth Prominent nasal bridge Thin upper lip vermilion Abnormality of the genital system Delayed speech and language development Low-set [mendelian.co]
Musculoskeletal
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Arthralgia
Asthenia / fatigue / weakness - Autosomal dominant inheritance - Chronic skin infection / ulcerations / ulcers / cancrum - Fever / chilling - Pustula / pustulosis - Restricted joint mobility / joint stiffness / ankylosis Frequent - Articular / joint pain / arthralgia [csbg.cnb.csic.es]
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Joint Stiffness
stiffness / ankylosis Frequent - Articular / joint pain / arthralgia - Lymphadenopathy / polyadenopathies - Monoclonal immunoglobulins / gammapathy / dysglobulinemia Occasional - Biological inflammatory syndrome / increased erythrocyte sedimentation [csbg.cnb.csic.es]
Psychiatrical
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Suggestibility
Incubation of her fibroblasts with AICA-riboside led to accumulation of AICAR, not observed in control cells, suggesting impairment of the final steps of purine biosynthesis, catalyzed by the bifunctional enzyme AICAR transformylase/IMP cyclohydrolase [ncbi.nlm.nih.gov]
Signal overlap suggestive of protein compartmentalization was detected in two cell lines from patients with the type II form of the disease (Figs 5 C9 and C10, 6 C9 and C10 and 7 C8 and C9). [academic.oup.com]
These subjects would have had a level of RBC MTX PG which we suggest would have been low. [ard.bmj.com]
Neurologic
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Profound Mental Retardation
AICAR causes profound mental retardation, epilepsy, dysmorphic features and congenital blindness. [malacards.org]
AICAR causes profound mental retardation, epilepsy, dysmorphic features and congenital blindness. {ECO:0000269 PubMed:15114530}. Note The disease is caused by mutations affecting the gene represented in this entry. [genecards.org]
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Asthenia
[…] dominant External references: 1 OMIM reference - No MeSH references External references: 1 OMIM reference - No MeSH references Pyogenic arthritis - pyoderma gangrenosum - acne Very frequent - Acne / acnea - Arthritis / synovitis / synovial proliferation - Asthenia [csbg.cnb.csic.es]
Workup
Serum
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Erythrocytosis
Chuvash erythrocytosis AICA-ribosiduria INTERACTOME ASSOCIATIONS (click on a score value to see the evidence) VHL ( 0.63 ) ATIC Citations in the biomedical literature: Chuvash erythrocytosis AICA-ribosiduria Synonym(s): - Chuvash polycythemia - Von Hippel-Lindau-dependent [csbg.cnb.csic.es]
Erythrocytosis, familial, 3, 609820 (3) EGLN2 G:606424. . EGLN3 G:606426. . EGOT G:611662. . EGR1 G:128990. . [usegalaxy.org]
Biopsy
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Hepatocellular Carcinoma
Cancers Cancers of eye, brain, and central nervous system Retinoblastoma Glioma Neuroblastoma Schwannoma Meningioma Medulloblastoma Cancers of the digestive system Esophageal cancer Gastric cancer Carcinoid Colorectal cancer Cancer of the anal canal Hepatocellular [csirnotes.com]
Hepatocellular carcinoma, somatic, 114550 (3) CASP8 G:601763. Immunodeficiency due to CASP8 deficiency, 607271 (3) CASP8 G:601763. {Breast cancer, protection against}, 114480 (3) CASP8 G:601763. [usegalaxy.org]
Treatment
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]
It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
Epidemiology
[…] 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]
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]
Prevention
Use of AICA riboside compounds for the treatment and prevention of tissue damage due to decreased blood flow EP0587789A1 ( en ) * 1991-06-07 1994-03-23 Gensia, Inc. [google.co.in]
AICA riboside also depressed excitatory synaptic transmission in area CA1 of the rat hippocampus, which was prevented by an adenosine A(1) receptor antagonist and reversed by application of adenosine deaminase. [wrap.warwick.ac.uk]
[…] 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]
Educational Resources The eMERGESPHINX.org website includes information regarding medical and health related topics and research or preventive care articles containing specific medical and health related information and links to other related websites [emergesphinx.org]
Inhibition of S6K1 phosphorylation by pemetrexed is prevented by 1 μmol/L compound C in H460 cells. [cancerres.aacrjournals.org]