Related Experiment Video
Updated: Jun 19, 2026
06:48
Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
Published on: March 23, 2022
[Imerslund-Gräsbeck syndrome].
P Choquet1, V Levrat, C Pondarre
1Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Femme-Mère-Enfant, 59 Boulevard Pinel, 69500 Bron Lyon, France. paulinechoquet@club-internet.fr
Summary
Anemia in children can stem from various causes, including rare conditions like Imerslund-Gräsbeck syndrome. Prompt diagnosis of this syndrome is crucial for effective treatment.
Area of Science:
- Pediatric Hematology
- Rare Genetic Disorders
Background:
- Anemia is a frequent pediatric clinical finding with diverse causes.
- Differential diagnosis includes common iron deficiency and rarer etiologies.
Observation:
- A case study highlights a child presenting with asthenia, drowsiness, and proteinuria.
- These symptoms led to the diagnosis of Imerslund-Gräsbeck syndrome.
Findings:
- Imerslund-Gräsbeck syndrome is a rare cause of vitamin B12 deficiency anemia.
- The condition is characterized by selective malabsorption of cobalamin.
Implications:
- Recognizing non-specific symptoms is key to diagnosing rare anemias.
- Aregenerative macrocytic anemia warrants thorough investigation for conditions like Imerslund-Gräsbeck syndrome.
- Timely diagnosis and tailored treatment are essential for pediatric patients.
Related Concept Videos
01:28Graves' Disease I: Introduction
Graves' disease is an autoimmune disorder that causes hyperthyroidism, or overactivity of the thyroid gland. It results from autoantibodies called thyroid-stimulating immunoglobulins (TSIs), which bind to thyroid-stimulating hormone (TSH) receptors, leading to overstimulation of hormone production and a hypermetabolic state.EtiologyAlthough considered idiopathic, Graves’ disease has well-established contributing factors. There is a strong genetic component, with increased prevalence in...
01:24Graves Disease II: Pathophysiology
Graves’ disease is an autoimmune disorder characterized by the production of thyroid-stimulating immunoglobulins (TSI) that activate TSH receptors, leading to excessive synthesis and release of thyroid hormones (T3 and T4) and resulting in hyperthyroidism.Among all causes of hyperthyroidism, Graves’ disease is the most common and can happen at any age, though it is more frequent in women. It produces a hypermetabolic state with features such as weight loss, tachycardia, tremor, and heat...
01:27Glucose Transporters
Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
01:21Smooth Endoplasmic Reticulum
Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
01:19Cushing Syndrome II: Pathophysiology
Cortisol production is normally governed by the hypothalamic–pituitary–adrenal (HPA) axis, which maintains hormonal balance through tightly regulated feedback mechanisms. Disruption of this regulatory system is central to the development of Cushing syndrome, whether the excess cortisol originates from external medications or internal pathology. Persistent cortisol elevation alters metabolism, immune function, and endocrine signaling, producing the characteristic clinical features of the...
01:05Type IV Collagen of Basal Lamina
Type IV collagen is a 400 nm long, network-forming collagen that acts as a barrier between the epithelial and endothelial cells. Type IV collagen forms the backbone of the basement membrane by scaffolding with laminin, entactin, proteoglycans, and fibronectin. Apart from rendering structural support to the basement membrane, it also helps entail signaling potentials necessary for both pathological and physiological functions.
A type IV collagen molecule has six alpha chains which can exist in...
A type IV collagen molecule has six alpha chains which can exist in...