Results 31 to 40 of about 12,812 (223)

Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis : A study from Tawam Hospital Metabolic Center, United Arab Emirates [PDF]

Sultan Qaboos University Medical Journal, 2014
Objectives: This study aimed to determine the mutation spectrum and prevalence of inborn errors of metabolism (IEM) among Emiratis. Methods: The reported mutation spectrum included all patients who were diagnosed with IEM (excluding those with lysosomal ...
Aisha Al-Shamsi, Jozef L. Hertecant, Sania Al-Hamad, Abdul-Kader Souid, Fatma Al-Jasmi   +4 more
doaj   +4 more sources

Glutaric aciduria type 1 in children. Clinical presentation of 46 cases in Russian families

Нервно-мышечные болезни, 2021
Background. Glutaric aciduria type 1 is an autosomal recessive disease caused by mutations in the GCDH gene, which encodes the enzyme glutaryl‑CoA dehydrogenase.
S. V. Mikhailova, E. V. Saifullina, P. V. Baranova, V. P.   Vorontsova, D.  I.   Gribov, M.   V. Zhivihina, A. N.   Slatetskaya, R.  V.   Magzhanov, V. A.  Samokhvalov, M.  N.  Virtseva, L.     P. Borscheva, E.  E.  Koh, M.   V.  Novikova, A. V.   Abrukova, E.     Yu. Belyashova, N.    Yu. Gerasimenko, L.     V. Guseva, Zh.     V. Yukhimenko, N.     V. Nikitina, T.  I.   Belyaeva, T.   A.  Shkurko, N.   A.  Pichkur, V.     S. Kakaulina, N.   L. Pechatnikova, N .  A. Polyakova, S.    A. Korostelev, D.    V. Pyankov, I.   V. Kanivets, N.   A.  Demina, E.     Yu. Pyrkova, G.     V. Baidakova, M.    V. Kurkina, E.   Yu.  Zakharova   +32 more
doaj   +1 more source

Systemic delivery of AAV-GCDH ameliorates HLD-induced phenotype in a glutaric aciduria type I mouse model. [PDF]

Mol Ther Methods Clin Dev
Mateu-Bosch A, Segur-Bailach E, Muñoz-Moreno E, Barallobre MJ, Arbonés ML, Gea-Sorlí S, Tort F, Ribes A, García-Villoria J, Fillat C.   +9 more
europepmc   +2 more sources

Prenatal presentation of glutaric aciduria type II: A case report with radiologic, clinical, biochemical, molecular, and pathological phenotyping

Clinical Case Reports, 2021
We know that glutaric aciduria type II is an inborn metabolism. This case report highlights that polycystic kidneys with hepatomegaly in prenatal ultrasound are suggestive of glutaric aciduria type II and it identifies a new variant as pathogenic.
Laurence Carmant, Aspasia Karalis, Françoise Rypens, Luc Oligny, Sandrine Wavrant, Anne‐Laure Lapeyraque, Elisabeth Codsi   +6 more
doaj   +1 more source

Clinical features and GCDH gene variants in three Chinese families with glutaric aciduria type 1: A case series and literature review. [PDF]

Mol Genet Metab Rep
Chen Y, Zhang Q, Cao L, Feng X, Lin P, Zhu S, Liu F, Wang X, Hao S, Cao Y, Wang H, Ni Y.   +11 more
europepmc   +2 more sources

GLUTARIC ACIDURIA ‘TYPE II’ [PDF]

Pediatric Research, 1975
A new fetal metabolic disorder is described, mainly characterised by severe acidosis and hypoglycaemia, a' sweaty-feet' like odour, and massive glutaric aciduria and acidaemia. In addition, urinary excretion of isobutyric and isovaleric acid was increased, as well as that of some dicarboxylic acids.
H. Przyrembel, U. Wendel, S. K. Wadman, H. J. Bremer   +3 more
openaire   +1 more source

GLUTARIC ACIDEMIA TYPE 1: A CASE REPORT FROM PAKISTAN

Khyber Medical University Journal, 2022
INTRODUCTION: Glutaric aciduria type 1 is a neurometabolic disorder occurring due to deficient activity of glutaryl-CoA dehydrogenase. Multiple neurotoxic metabolites start accumulating in plasma, CSF and urine which are detected by mass spectrometry ...
Noshaba Noor, Hira Waseem
doaj   +1 more source

Ammonium accumulation and cell death in a rat 3D brain cell model of glutaric aciduria type I. [PDF]

PLoS ONE, 2013
Glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency) is an inborn error of metabolism that usually manifests in infancy by an acute encephalopathic crisis and often results in permanent motor handicap.
Paris Jafari, Olivier Braissant, Petra Zavadakova, Hugues Henry, Luisa Bonafé, Diana Ballhausen   +5 more
doaj   +1 more source

Microencephaly in macrocephaly: Rare report of two siblings with glutaric aciduria type 1

Annals of Movement Disorders, 2021
Glutaric aciduria type 1 is an autosomal recessive disorder caused by mutations in GCDH gene on chromosome 19 leading to the deficiency of glutaryl-CoA dehydrogenase which causes an abnormal metabolism of lysine, hydroxylysine and tryptophan with ...
Ayush Agarwal, Divyani Garg, Sangeeta Agarwal   +2 more
doaj   +1 more source

Two patients with glutaric aciduria type 3: a novel mutation and brain magnetic resonance imaging findings

The Turkish Journal of Pediatrics, 2020
Background. Glutaric Aciduria Type 3 (GA-3) is a rare metabolic disease which is inherited autosomal recessively and characterized by isolated glutaric acid excretion. To date, a limited number of cases have been reported in the literature.
Sevil Dorum, Cengiz Havalı, Özlem Görükmez, Orhan Görükmez   +3 more
doaj   +1 more source