AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency

Last update 23 Jan 2025

Basic Info

Synonyms

5-amino-4-imidazole carboxamide ribosiduria, 5-amino-4-imidazole carboxamide ribosiduria (diagnosis), 5-amino-4-imidazole carboxamide ribosiduria (disorder)

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Introduction

An extremely severe inborn error of purine biosynthesis with clinical characteristics in the single reported case to date of profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows and shoulders and congenital blindness. In the one reported case the disease was caused by compound heterozygous mutation in the ATIC gene on chromosome 2q35.

100 Clinical Results associated with AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency

100 Translational Medicine associated with AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency

0 Patents (Medical) associated with AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency

Literatures (Medical) associated with AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency

01 Jul 2024·Gastrointestinal Endoscopy

THE ROLE OF MAGNETIC RESONANCE CHOLANGIOPANCREATOGRAPHY FOR PREVENTING PANCREATIC FLUID COLLECTION RECURRENCE AFTER EUS-GUIDED DRAINAGE OF WALLED-OFF NECROSIS

Article

Author: Storm, Andrew C ; Chandrasekhara, Vinay ; Martin, John A. ; Abu Dayyeh, Barham K ; Petersen, Bret T ; Storm, Andrew C. ; Martin, John A ; Law, Ryan ; Petersen, Bret T. ; Vargas, Eric J. ; Majumder, Shounak ; Bofill, Aliana ; Vargas, Eric J ; Abu Dayyeh, Barham K. ; Vege, Santhi

BACKGROUND AND AIMSPancreatic fluid collections (PFCs) may recur after initial successful endoscopic drainage of walled-off necrosis (WON), most commonly due to disconnected pancreatic duct syndrome (DPDS). The primary aim of this study was to assess the role of MRCP for identifying DPDS to guide appropriate management and prevent PFC recurrence.METHODSPatients with WON undergoing lumen-apposing metal stent drainage of a PFC were retrospectively identified and categorized as those with MRCP versus those without MRCP before removal of transmural stents. Data on patient demographic characteristics, procedural details, cross-sectional imaging, and recurrence rates were collected through chart review.RESULTSA total of 121 patients with WON were identified, of whom 44 (36.4%) had an MRCP before transmural stent removal. In patients without MRCP, 13 (16.8%) of 77 had PFC recurrence versus 0 of 44 (0%; P = .003) in those with MRCP. MRCP identified DPDS in 12 (27.2%) patients, all of whom were managed with indefinite drainage with double-pigtail plastic stents without recurrence. In the group without MRCP, PFCs recurred at a median interval of 284 days (interquartile range, 182-618 days) after transmural stent removal. Among the 13 patients with PFC recurrence, 11 (85%) had undiagnosed DPDS detected on subsequent imaging, of whom 9 were subsequently managed with indefinite double-pigtail plastic stents, with no further PFC recurrence.CONCLUSIONSPatients with WON who underwent MRCP before transmural stent removal had a lower rate of PFC recurrence largely due to the identification of DPDS with appropriate endoscopic management.

01 May 2024·Pancreas

Prediction of Admission to Intensive Care Unit and 1-Year Mortality After Acute Pancreatitis With Walled-Off Pancreatic Necrosis

Article

Author: Werge, Mikkel Parsberg ; Karstensen, John Gasdal ; Novovic, Srdan ; Ebrahim, Mohamed ; Amin, Nadia Emad Lotfi ; Jorgensen, Henrik Lovendahl

Background and aimsPancreatic walled-off necrosis (WON) carries significant mortality and morbidity risks, often necessitating intensive care unit (ICU) admission. This retrospective study aimed to evaluate whether routine biochemical parameters at the time of the index endoscopic procedure could predict ICU admission and 1-year mortality following endoscopic treatment of WON.Materials and MethodsWe retrospectively identified 201 consecutive patients who underwent endoscopic drainage for WON between January 1, 2010, and December 31, 2020. Associations between routine biochemical blood tests and outcomes were assessed using logistic regression models.ResultsWithin 1 year of the index endoscopy, 31 patients (15.4%) died, and 40 (19.9%) were admitted to the ICU due to sepsis. Preoperative electrolyte disturbances were more prevalent among ICU-admitted patients and nonsurvivors. Hyperkalemia, hypoalbuminemia, and elevated urea were significant predictors of 1-year mortality, while hypernatremia, elevated serum creatinine, and hypoalbuminemia predicted ICU admission. Predictive models exhibited good discriminative ability, with an AUC of 0.84 (95% CI,0,75–0.93) for 1-year mortality and 0.86 (95%CI, 0.79–0.92) for ICU admission.ConclusionsPreoperative imbalances in routine blood tests effectively predict adverse outcomes in endoscopically treated WON patients.

01 Mar 2024·Molecular Genetics and Metabolism

Treatment of AICA ribosiduria by suppression of de novo purine synthesis

Article

Author: Park, Julien H ; Biskup, Saskia ; Uhlig, Constantin E ; Braun, Tim ; Och, Ulrike ; Korall, Herbert ; Kriegel, Matthias F ; Marquardt, Thorsten

AICA ribosiduria is an ultra-rare disorder of de novo purine biosynthesis associated with developmental delay of varying severity, seizures, and varying degrees of visual impairment due to chorioretinal atrophy. Caused by biallelic pathogenic variants in ATIC, accumulation of AICA-riboside is the biochemical hallmark and presumed pathomechanism of the condition. In this study, we report the case of a teenage patient compound-heterozygous for the variants c.1277 A > G (p.K426R) and c.642G > C (p.Q214H) in ATIC, with the latter not previously reported. Excessive secretion of AICA-riboside and succinyladenosine was significantly reduced following the introduction of a purine-enriched diet. By suppressing de novo purine biosynthesis in favour of purine salvage, exogenous purine substitution represents a promising treatment approach for AICA ribosiduria. SYNOPSIS: Suppression of de novo purine biosynthesis by increased exogeneous purine supply leads to decreased accumulation of AICA-riboside and succinyl-adenosine and thus is a promising treatment approach for AICA ribosiduria.

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AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency

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