Results 101 to 110 of about 4,483 (224)

FITM2‐Related Siddiqi Syndrome in Two Iranian Siblings

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT We report the first two Iranian siblings with Siddiqi syndrome, carrying a novel likely pathogenic FITM2 variant. Both presented with hallmark features, including early‐onset sensorineural hearing loss, severe generalized dystonia, growth failure, and ichthyosis of the lower limbs, expanding the geographic and genetic spectrum of this rare ...
Raha Ahmadi, Mohammad Javad Bavarsad, Meysam Feizollah Jani, Reza Azizimalamiri   +3 more
wiley   +1 more source

Update on Genetic Chorea

European Journal of Neurology, Volume 32, Issue 10, October 2025.
This review provides an updated clinical and genetic framework for the differential diagnosis of hereditary chorea. It guides neurologists through the interpretation of phenomenology, ancillary tests, and appropriate genetic techniques to achieve an accurate and timely diagnosis.
Jesús Pérez‐Pérez, Gonzalo Olmedo‐Saura, Saül Martínez‐Horta, Sara Bernal, Javier Pagonabarraga, Jaime Kulisevsky   +5 more
wiley   +1 more source

Natural history of glutaric aciduria type 1 [PDF]

Archives of Disease in Childhood, 2000
Editor,—In their retrospective study, Monavari and Naughten ( Arch Dis Child 2000; 82 :67–70) suggest that early intensive management can alter the natural history of glutaric aciduria type 1. However, the pathogenesis of this disorder is poorly understood and just what is responsible for the better outcome is …
openaire   +1 more source

Clinico-Biochemical Spectrum of Pakistani Patients with Glutaric Aciduria Type 1 (GA1): Experience from a Specialised Biochemical Genetics Laboratory in Pakistan.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
OBJECTIVE To evaluate the clinical, radiological, and biochemical features of glutaric aciduria Type 1 (GA1) patients identified through urine organic acid testing at a biochemical genetics laboratory (BGL) in Pakistan. STUDY DESIGN Observational study.
Muhammad Bilal, L. Jafri, H. Majid, Aysha Habib Khan, Sibtain Ahmed   +4 more
semanticscholar   +1 more source

Neurocognitive Impairment in Inherited Metabolic Disorders due to Intoxication and Energy Defects: A Systematic Review

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT Inherited metabolic disorders (IMD) can disrupt brain development and functioning, leading to cognitive and behavioral abnormalities. This systematic review aims to provide a comprehensive synthesis of the evidence regarding neurocognitive impairments in intoxication IMD due to the accumulation of small molecule disorders and energy‐related ...
Marta Gil‐González, Carolina Arias, Jean‐Marie Saudubray, Roser Colomé‐Roura, Ángeles García‐Cazorla   +4 more
wiley   +1 more source

Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics. [PDF]

, 2019
Inborn errors of metabolism (IEMs) are a group of inherited diseases with variable incidences. IEMs are caused by disrupting enzyme activities in specific metabolic pathways by genetic mutations, either directly or indirectly by cofactor deficiencies ...
Fiehn, Oliver, Ismail, Israa T, Showalter, Megan R   +2 more
core   +2 more sources

Characterization, structure and inhibition of the human succinyl-CoA:glutarate-CoA transferase, a genetic modifier of glutaric aciduria type 1

bioRxiv
Glutaric Aciduria Type 1 (GA1) is a serious inborn error of metabolism with no pharmacological treatments. A novel strategy to treat this disease is to divert the toxic biochemical intermediates to less toxic or non-toxic metabolites.
S. Khamrui, Tetyana Dodatko, Ruoxi Wu, João Leandro, Amanda Sabovic, S. Violante, Justin R. Cross, Eric Marsan, Kunal Kumar, Robert J. Devita, Michael B. Lazarus, S. Houten   +11 more
semanticscholar   +1 more source

Maternal Circulatory NAD Precursor Levels and the Yolk Sac Determine NAD Deficiency‐Driven Congenital Malformation Risk

The FASEB Journal, Volume 39, Issue 14, 31 July 2025.
Maternal circulatory L‐tryptophan (TRP) and nicotinamide (NAM) levels are proportional to dietary TRP intake. Yolk sacs, but not embryos, perform NAD de novo synthesis. This study explores the exchange of NAD precursors between mother and conceptus, and NAD generation in conceptal tissues via the NAD de novo synthesis (blue) or salvage (red) pathways ...
Kayleigh Bozon, Hartmut Cuny, Delicia Z. Sheng, Alena Sipka, Antonia W. Shand, Natasha Nassar, Sally L. Dunwoodie   +6 more
wiley   +1 more source

Fatal cervical myelopathy in a child with glutaric aciduria type 1

Journal of Inherited Metabolic Disease
We report the case of a Syrian female refugee with late diagnosis of glutaric aciduria type 1 characterised by massive axial hypotonia and quadriplegia who only started adequate diet upon arrival in Switzerland at the age of 4 years, after a strenuous ...
Eline Chauvet, Diana Ribeiro, Ilse Kern, J. Fluss   +3 more
semanticscholar   +1 more source

Screening for Life: Perspectives From Adult Metabolic Specialists on Newborn Screening for Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT The number of inherited metabolic diseases (IMDs) in newborn screening (NBS) programs has increased significantly in the past decades. For some of the IMDs included in NBS (e.g., tyrosinemia type I), there are clear and substantial health benefits of NBS, while for others (e.g., very long chain acyl CoA dehydrogenase deficiency and 3 ...
Mirjam Langeveld, Sandra Sirrs, Daphne H. Schoenmakers, Timothy Fazio, Melanie M. van der Klauw, Francois Maillot, Reena Sharma, Christel Tran, Athanasia Ziagaki, Fanny Mochel   +9 more
wiley   +1 more source