3‐Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D‐ and L‐3‐Hydroxyisobutyric acid by an LC–MS / MS method

Autor: Florin Sasarman, Sacha Ferdinandusse, David S. Sinasac, Ernest Fung, Rebecca Sparkes, Melanie Reeves, Catherine Rombough, Jörn Oliver Sass, Renate Voit, Jos P. N. Ruiter, Janet Koster, Hans R. Waterham, Elisabetta Pasquini, Maria A. Donati, Thorsten Marquardt, Ronald J. A. Wanders, Walla Al‐Hertani

Publikováno v: Journal of inherited metabolic disease, 45(3), 445-455. Springer Netherlands
Sasarman, F, Ferdinandusse, S, Sinasac, D S, Fung, E, Sparkes, R, Reeves, M, Rombough, C, Sass, J R O, Voit, R, Ruiter, J P N, Koster, J, Waterham, H R, Pasquini, E, Donati, M A, Marquardt, T, Wanders, R J A & Al-Hertani, W 2022, ' 3-Hydroxyisobutyric acid dehydrogenase deficiency : Expanding the clinical spectrum and quantitation of D-and L-3-Hydroxyisobutyric acid by an LC–MS/MS method ', Journal of Inherited Metabolic Disease, vol. 45, no. 3, pp. 445-455 . https://doi.org/10.1002/jimd.12486
Journal of Inherited Metabolic Disease, 45(3), 445-455. Springer Netherlands

A deficiency of 3-hydroxyisobutyric acid dehydrogenase (HIBADH) has been recently identified as a cause of primary 3-hydroxyisobutyric aciduria in two siblings; the only previously recognized primary cause had been a deficiency of methylmalonic semia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de42948885439dd23c5e3881b2097d9e
https://doi.org/10.1002/jimd.12486

Transiently elevated plasma methionine, S ‐adenosylmethionine and S ‐adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of deglycosylation

Autor: Xing-Chang Wei, Caitlin A. Chang, Walla Al-Hertani, Steven R. Martin, David S. Sinasac

Publikováno v: JIMD Reports, Vol 49, Iss 1, Pp 21-29 (2019)
JIMD Reports

We report on a 5‐year‐old female born to consanguineous parents, ascertained at the age of 23 months for an elevated plasma methionine level, a mildly abnormal total plasma homocysteine (tHcy), and elevated aminotransferases. She had global devel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d36e669a7e1e90252ae691c62f1dd49f
https://doi.org/10.1002/jmd2.12064

Altered glutamine metabolism of cultured fibroblasts predicts severity of cardiac dysfunction in the dilated cardiomyopathy with ataxia syndrome (DCMA), a mitochondrial cardiomyopathy

Autor: Steven C. Greenway, Aneal Khan, Edward L. Huttlin, Katherine Heger, David S. Sinasac, Ian A. Lewis, Melissa King

Dilated cardiomyopathy with ataxia (DCMA) syndrome is a rare mitochondrial disorder caused by mutations in the poorly understood DNAJC19 gene. The clinical presentation of DCMA is very diverse with symptoms ranging from mild cardiac dysfunction to in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9c50a9e5e974a26628ae0e8055c25faa
https://doi.org/10.1101/2020.10.11.334938

Oral aversion to dietary sugar, ethanol and glycerol correlates with alterations in specific hepatic metabolites in a mouse model of human citrin deficiency

Autor: Kanako Inoue, Tatsuhiko Furukawa, Mitsuaki Moriyama, Akio Inui, Eishi Kuroda, Takeyori Saheki, Takashi Kadowaki, David S. Sinasac, Keiko Kobayashi, Yuki Fujimoto, Sumie Furuie, Hiromi Ono, Kazuhiro Eto, Akihiro Asakawa, Takashi Yamamoto, Ken Ichi Yamamura, Miharu Ushikai

Publikováno v: Molecular Genetics and Metabolism. 120:306-316

Mice carrying simultaneous homozygous mutations in the genes encoding citrin, the mitochondrial aspartate-glutamate carrier 2 (AGC2) protein, and mitochondrial glycerol-3-phosphate dehydrogenase (mGPD), are a phenotypically representative model of hu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::697fbd4587199efcf2920d7a6574dd83
https://doi.org/10.1016/j.ymgme.2017.02.004

D-2-hydroxyglutaric aciduria in a patient with speech delay due to a novel homozygous deletion in the D2HGDH gene

Autor: David S. Sinasac, F. Sasarman, E. Phillips, Walla Al-Hertani

Publikováno v: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 20, Iss, Pp-(2019)

D-2-hydroxyglutaric aciduria is a rare neurometabolic condition with a variable clinical spectrum. Here we report on a patient with speech delay, ascertained for an elevated urine 2-hydroxyglutaric acid levels, and found to have a novel pathogenic ho

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6ed59ffaa91b9d25431b6532802ab63
http://europepmc.org/articles/PMC6580329