Results 101 to 110 of about 12,812 (223)
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 +3 more
wiley +1 more source
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 +5 more
wiley +1 more source
Glutaric aciduria and suspected child abuse [PDF]
Archives of Disease in Childhood, 1999 Subdural and retinal haemorrhages in young children without an appropriate history of trauma strongly suggest non-accidental injury. Similar features are occasionally found in patients with glutaric aciduria type 1 (GA1), a rare inborn error of metabolism, and have led to the misdiagnosis of non-accidental injury.1-3 When and how should this condition ...
Morris AAM +5 more
openaire +3 more sources
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 +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 +2 more
core +2 more sources
Glutaric aciduria type I: A treatable neurometabolic disorder
Annals of Indian Academy of Neurology, 2012 Background and Objectives: Glutaric aciduria Type-I (GA-I) has characteristic clinical and neuroimaging features, which clinches the diagnosis in a majority of patients. However, there have been few case reports on GA-I from India.
Mahesh Kamate +4 more
doaj +1 more source
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 +6 more
wiley +1 more source
A Case of Glutaric Aciduria Type I with a Novel Mutation
Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2013 Glutaric aciduria type I is an autosomal recessive inherited disorder caused by the deficiency of glutaryl CoA dehydrogenase. The incidence of the disease is 1/100.000. Glutaryl CoA dehydrogenase gene is located on locus 19p13.2.
Nilgun Uyduran Unal +4 more
doaj
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 +9 more
wiley +1 more source
Ketotic Hypoglycaemia Following Sleeve Gastrectomy
Clinical Endocrinology, Volume 103, Issue 1, Page 45-49, July 2025.ABSTRACT Post‐bariatric surgery hypoglycaemia is typically mediated by hyperinsulinaemia, although the exact mechanisms are incompletely understood. Two cases of non‐insulin mediated, ketotic hypoglycaemia following sleeve gastrectomy are presented. After fasting for 40 and 65 h, respectively, both patients developed symptomatic hypoglycaemia, with ...
Jinwen He +3 more
wiley +1 more source