Results 11 to 20 of about 443 (126)

Novel genotype of mevalonic aciduria with fatalities in premature siblings. [PDF]

Arch Dis Child Fetal Neonatal Ed, 2004
Mevalonic aciduria is described in two very low birthweight siblings with unspecific clinical signs and recurrent septicaemia. Both died within the first 2 months of life. DNA analysis showed a novel mutation in the gene encoding mevalonate kinase.
Raupp P, Varady E, Duran M, Wanders RJ, Waterham HR, Houten SM.   +5 more
europepmc   +5 more sources

Unraveling the Interplay Between Metabolism and Neurodevelopment in Health and Disease. [PDF]

CNS Neurosci Ther
Neurodevelopment is orchestrated by precise metabolic regulation. Key metabolic processes—glucose, lipid, and amino acid metabolism—drive cell proliferation, differentiation, synaptogenesis, and neurotransmitter synthesis. These are tightly integrated with signaling pathways like mTOR, AMPK, and insulin/IGF that regulate neuronal growth and synaptic ...
He Y, Xie K, Yang K, Wang N, Zhang L.
europepmc   +2 more sources

A case report of Hyper-IgD syndrome in a 5-year-old girl with recurrent fever, skin rash, and arthralgia; novel MVK mutation (C.298G>A). [PDF]

Clin Case Rep
Key Clinical Message This case highlights the potential for later‐onset Hyper‐IgD syndrome (HIDS) even beyond infancy. Clinicians evaluating children with recurrent fever, skin rash, and arthralgia should consider HIDS in the differential diagnosis, regardless of age.
Tabibi P, Shiari R, Ghotb Abadi SH.
europepmc   +2 more sources

A Distinct Phenotype of Mevalonic Acidemia with Absence of Pathogenic Mutations of Mevalonate Kinase Gene [PDF]

مجلة جامعة النجاح للأبحاث العلوم الطبيعية, 2016
Mevalonic aciduria is an autosomal recessive disorder caused by deficiency of mevalonate kinase and characterized by recurrent febrile crisis, ophthalmic and neurological manifestations.
Imad Dweikat, Nadera Damsa, Enas Naser
doaj   +1 more source

Autoinflammatory disease syndrome of hyperimmunoglobulinemia D

Медицинский вестник Юга России, 2022
Objective: present a clinical case of a rare autoinflammatory disease. Materials and methods: an analysis of a clinical case of mevalonate kinase deficiency syndrome in an 8-year-old girl was carried out.
T. M. Somova
doaj   +1 more source

A Patient With Concurrent Hidradenitis Suppurativa and Porokeratosis Palmaris et Plantaris Disseminata: Case Report and Review of Autoinflammatory Keratinization Diseases. [PDF]

J Cutan Pathol
ABSTRACT The term autoinflammatory keratinization diseases (AIKDs) was recently proposed as a unifying concept for diseases characterized by inflammation in the epidermis and upper dermis which leads to hyperkeratosis, caused by genetic perturbations of the innate immune system.
Rogers MC, Ash M, Hernandez A, Hosler GA.   +3 more
europepmc   +2 more sources

Compromised Protein Prenylation as Pathogenic Mechanism in Mevalonate Kinase Deficiency

Frontiers in Immunology, 2021
Mevalonate kinase deficiency (MKD) is an autoinflammatory metabolic disorder characterized by life-long recurring episodes of fever and inflammation, often without clear cause. MKD is caused by bi-allelic pathogenic variants in the MVK gene, resulting in
Frouwkje A. Politiek, Hans R. Waterham
doaj   +1 more source

Mevalonate kinase deficiency syndrome: Single center experience

Научно-практическая ревматология, 2021
The aim of this study was to analyze the clinical, laboratory and molecular genetic data of 26 patients (15 boys, 11 girls) diagnosed with mevalonate kinase deficiency syndrome (MKD).Subjects and methods.
A. L. Kozlova, V. O. Bludova, V. I. Burlakov, E. V. Raykina, T. V. Varlamova, М. А. Kurnikova, А. N. Remizov, G. V. Tereshchenko, А. А. Moiseeva, S. А. Dibirova, А. L. Khoreva, А. А. Roppelt, Yu. А. Rodina, N. B. Kuzmenko, А. А. Mukhina, Е. I. Каlashnikova, L. N. Igisheva, N. V. Martynova, О. V. Zhogova, S. B. Zimin, О. V. Barabanova, Yu. V. Kotova, G. А. Novichkova, А. Yu. Shcherbina   +23 more
doaj   +1 more source

Ex vivo proton spectroscopy (1H‐NMR) analysis of inborn errors of metabolism: Automatic and computer‐assisted analyses

NMR in Biomedicine, Volume 36, Issue 4, April 2023., 2023
From the urinary spectrum, 150 metabolites are quantified fully automatically but hundreds of additional metabolites can be identified manually with computer‐assisted proposals for a final diagnosis. A multidisciplinary team decides on further genetic analysis.
Claire Cannet, Georg Frauendienst‐Egger, Peter Freisinger, Hermann Götz, Madalina Götz, Nastassja Himmelreich, Vanessa Kock, Manfred Spraul, Christine Bus, Saskia Biskup, Friedrich Trefz   +10 more
wiley   +1 more source

ROSAH syndrome mimicking chronic uveitis

Clinical Genetics, Volume 103, Issue 4, Page 453-458, April 2023., 2023
An autosomal dominant multi‐systemic disorder including Retinal dystrophy, Optic nerve oedema, Splenomegaly, Anhidrosis and migraine Headaches, called ROSAH syndrome, has been related to a unique missense variant in ALPK1 gene. The main morbidity is ophthalmological and most of the patients have been treated for years with immunosuppressive treatments ...
Christine Fardeau, Munirah Alafaleq, Claire‐Marie Dhaenens, Hélène Dollfus, Isabelle Koné‐Paut, Olivier Grunewald, Jean‐Baptiste Morel, Cherif Titah, David Saadoun, Patrice Olivier Lazeran, Isabelle Meunier   +10 more
wiley   +1 more source