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Last update 08 May 2025

Imerslund-Grasbeck Syndrome

Last update 08 May 2025

Basic Info

Synonyms

Congenital vitamin B12 deficiency, ENTEROCYTE COBALAMIN MALABSORPTION, ENTEROCYTE INTRINSIC FACTOR RECEPTOR, DEFECT OF

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Introduction

An autosomal recessive disorder caused by mutations in the CUBN or AMN genes. It is characterized by vitamin B12 deficiency due to selective malabsorption of the vitamin, and usually results in megaloblastic anemia appearing in childhood (but not immediately after birth).

Clinical Trials associated with Imerslund-Grasbeck Syndrome

CTRI/2024/10/075521

/ Not yet recruitingPhase 2IIT

comparing the therapeutic effects of intranasal, intramuscular, intravenous B12 administration on haematological parameters in B12 deficiency anaemia - CHAMPION B12

Start Date30 Oct 2024

Sponsor / Collaborator

Armed Forces Medical College

DRKS00032822

/ CompletedNot ApplicableIIT

ESPED survey Vitamin B12 deficiency in the first year of life

Start Date01 Jan 2021

Sponsor / Collaborator

Universitätsklinikum Heidelberg

100 Clinical Results associated with Imerslund-Grasbeck Syndrome

100 Translational Medicine associated with Imerslund-Grasbeck Syndrome

0 Patents (Medical) associated with Imerslund-Grasbeck Syndrome

244

Literatures (Medical) associated with Imerslund-Grasbeck Syndrome

01 Jan 2025·Transfusion Clinique et Biologique

Study of clinical manifestations and etiologies of megaloblastic anemia in children

Article

Author: Chabchoub, Imen ; Kolsi, Roeya ; Maaloul, Ines ; Kamoun, Thouraya ; Aloulou, Hajer ; Rekik, Taicir ; Belhaj, Rim

BACKGROUND AND AIMMegaloblastic anemia (MA) is a rare pathology in childhood due, in the majority of cases, to a deficiency of folic acid and/or vitamin B12 (cobalamin). This study aims to determine the epidemiological, clinical, and paraclinical profiles of MA in children and to specify its etiologies, therapeutic modalities, and treatment responses.METHODSThis is a retrospective descriptive study of MA cases in children carried out in the General Pediatrics Department of the Hedi Chaker University Hospital of Sfax over a period of 42 years, from January 1979 to December 2021. We included all the patients under 16 years old with a myelogram showing megaloblastosis. The selected patients' demographic characteristics, physical signs, laboratory findings, and treatment responses were recorded.RESULTSTwenty cases of MA were collected, including 11 boys and 9 girls. The incidence of MA in children was 0.014%. The median age at diagnosis was 3.37 years. The clinical presentation was anemic syndrome with pallor and asthenia in all the cases. Neurological manifestations were noted in 2 cases and digestive disorders in 10 cases. Seven infants had psychomotor delays. On admission, all our patients had anemia with an average value of 5.6 g/dl. It was macrocytic in 19 cases. The blood count also revealed leukopenia (7 cases), thrombocytopenia (10 cases), and pancytopenia (5 cases). The myelogram showed megaloblastosis in all the cases and sideroblasts in one. A brain MRI was performed on five patients, and it showed abnormalities in three cases. The etiological investigations revealed a vitamin B12 deficiency secondary to a maternal Biermer's disease (6 cases), malnutrition (3 cases), Imerslund's disease (3 cases), congenital deficiency in transcobalamin II (3 cases), Biermer's disease (1 case), giardiasis (1 case), folic acid deficiency secondary to a poor dietary intake (1 case), mitochondrial cytopathy with vitamin B12-Folic acid deficiency (1 case), and Pearson syndrome (1 case). Our treatment included symptomatic measures, replacement therapy, and etiological treatment. Favorable evolution was noted in 11 cases. Five patients had neurological sequelae, and one patient died.CONCLUSIONOur study highlights the rarity and heterogeneity of the etiological contexts of MA in children. Early diagnosis and therapeutic support can improve the long-term neurological prognosis.

01 Jan 2025·Canadian Journal of Kidney Health and Disease

Chronic Benign Tubular Albuminuria From Compound Heterozygous Variants in CUBN: A Case Report

Article

Author: Pietrobon, Adam ; Elliott, Mark D.

Rationale: Albuminuria is a commonly used parameter for predicting decline in kidney filtration function. Cubilin, encoded by CUBN, is a critical protein involved in protein reabsorption in the proximal tubule. Mutations in CUBN lead to Imerslund-Gräsbeck syndrome (IGS), a disorder characterized by vitamin B12 deficiency (and consequences related to that) with or without albuminuria. Recent evidence suggests that C-terminal variants in CUBN may lead to albuminuria without other features of IGS. Presenting concerns of the patient: Here, we report a case of a 52-year-old male with chronic, albumin-predominant, subnephrotic range proteinuria since his teenage years, but preserved estimated glomerular filtration rate (eGFR). Interventions: Neither angiotensin-converting enzyme (ACE) inhibition nor angiotensin Type II (AT-II) receptor blockade reduced his degree of albuminuria. Diagnosis: Genetic testing identified 3 distinct pathogenic variants in CUBN that were confirmed by segregation analysis to be a compound heterozygous mode of inheritance. All variants were downstream of the intrinsic factor-vitamin B12 binding domain of cubilin. The patient had normal vitamin B12 levels and did not exhibit any features of IGS. Outcomes: Kidney biopsy was not pursued for this patient as diagnostic clarification was achieved by non-invasive genetic testing alone. Novel findings: This case highlights several important lessons. First, not all albuminuria is made equal, and forms of tubular albuminuria can exist without compromising kidney filtration function. Second, identifying genetic forms of tubular albuminuria is key to avoiding ineffective interventions (eg, ACE inhibition, AT-II receptor blockade, sodium-glucose cotransporter-2 [SGLT2] inhibition) and unnecessary invasive procedures (eg, kidney biopsy). Third, the location of CUBN variants dictates phenotypic consequences, with C-terminal variants leading to albuminuria without vitamin B12 deficiency.

01 Dec 2024·Clinical Biochemistry

Clinical, biochemical, molecular characteristics and clinical outcome of hyperhomocysteinemia in Malaysian children

Article

Author: Idrus, Hamizah ; Malik, Nur Aisyah Abdul ; Azize, Nor Azimah Abdul ; Hian, Lua Seok ; Moey, Lip Hen ; Nor, Ainna Mohd ; Hock, Ngu Lock ; Habib, Anasufiza ; Nasohah, Sofwatul Muktaroh

BACKGROUNDHyperhomocysteinemia can be due to various abnormalities of the complex interaction of methionine, folate and vitamin B12. It has been known to be a cardiovascular risk factor. This study aims to review the clinical presentation, underlying causes and clinical outcome in paediatric patients diagnosed with significant hyperhomocysteinemia in Malaysia.DESIGN AND METHODSData were obtained from the medical records and the laboratory information system. Paediatric patients with significant hyperhomocysteinemia were identified from a selective high-risk screening of 96,721 patients, performed between 2010 and 2022. Inclusion criteria for the study were paediatric patients with significant hyperhomocysteinemia (>40 µmol/L).RESULTSSixteen patients were identified. The average total homocysteine (tHcy) and methionine were 269 µmol/L and 499 µmol/L in cystathionine β-synthase deficiency (CBS), 127 µmol/L and 29 µmol/L in patients with remethylation defects and 390 µmol/L and 4 µmol/L in congenital B12 deficiency. We found c.609G>A as the most prevalent mutation in MMACHC gene and possible novel mutations for CBS (c.402del, c.1333C>T and c.1031T>G) and MTHFR genes (c.266T>A and c.1249del). Further subclassification revealed CBS was 5/16 patients (31 %), remethylation defects was 9/16 (56 %) and congenital B12 deficiency was 2/16 (13 %). All patients received standard treatment and regular monitoring of the main biomarkers. The average age at the time of diagnosis were 9.2 years (CBS) and 1.2 years (remethylation defects). Congenital B12 deficiency had slight delay in milestones, remethylation defects had mild to moderate learning disabilities, CBS had variable degree of intellectual disability, delayed milestones, ophthalmological abnormalities, and thrombosis at an early adolescent/adulthood.CONCLUSIONSThe majority of significant hyperhomocysteinemia in Malaysian children was due to remethylation defects. Screening for hyperhomocysteinemia in Malaysian children is recommended for earlier treatment and improved clinical outcome.

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Imerslund-Grasbeck Syndrome

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