Results 1 to 10 of about 16,956 (208)

Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence. [PDF]

, 2020
CBS deficient individuals undergoing betaine supplementation without sufficient dietary methionine restriction can develop severe hypermethioninemia and brain edema. Brain edema has also been observed in individuals with severe hypermethioninemia without
Barea, Jaime J, Barshop, Bruce A, Benoist, Jean-Francois, Blom, Henk J, Das, Anibh M, Feigenbaum, Annette, Fletcher, Janice, Scheffner, Thomas, Schwahn, Bernd C, Stepman, Hedwig, Verloo, Peter   +10 more
core   +1 more source

Clinical phenotype and gene mutation of short-chain acyl-coenzyme A dehydrogenase deficiency in a Chinese family

Chinese Journal of Contemporary Neurology and Neurosurgery, 2018
Objective To analyze the clinical phenotype and genetic characteristics of short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD). Methods and Results The proband was one month and 14 days old girl, who presented mental and motor retardation ...
Xin-na JI, Ying-ying MAO, Zhi-jie GAO, Bo-jing TAN, Yun-lin LI, Ke-ming XU, Qian CHEN, Shu-hua CHEN   +7 more
doaj   +1 more source

Inborn errors of metabolism: a clinical overview [PDF]

, 1999
CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
core   +4 more sources

Earwax: A potentially useful medium to identify inborn errors of metabolism?

JIMD Reports, 2020
Earwax was investigated as a source to identify patients' different inborn errors of metabolism (IEMs). Acylcarnitines, amino acids, and guanidino metabolites were measured from 28 treated patients with 11 different metabolic disorders including 3 ...
Stefan Krywawych, Maureen Cleary, Mel McSweeney, Simon Heales   +3 more
doaj   +1 more source

Economics of tandem mass spectrometry screening of neonatal inherited disorders [PDF]

, 2006
Objectives: The aim of this study was to evaluate the cost-effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS). Methods: A systematic review
Beverley, C., Chilcott, J., Eastham, J., Paisley, S., Pandor, A.   +4 more
core   +1 more source

Functional Assessment of Lipoyltransferase-1 Deficiency in Cells, Mice, and Humans

Cell Reports, 2019
Summary: Inborn errors of metabolism (IEMs) link metabolic defects to human phenotypes. Modern genomics has accelerated IEM discovery, but assessing the impact of genomic variants is still challenging.
Min Ni, Ashley Solmonson, Chunxiao Pan, Chendong Yang, Dan Li, Ashley Notzon, Ling Cai, Gerardo Guevara, Lauren G. Zacharias, Brandon Faubert, Hieu S. Vu, Lei Jiang, Bookyung Ko, Noriko Merida Morales, Jimin Pei, Gonçalo Vale, Dinesh Rakheja, Nick V. Grishin, Jeffrey G. McDonald, Garrett K. Gotway, Markey C. McNutt, Juan M. Pascual, Ralph J. DeBerardinis   +22 more
doaj   +1 more source

Fatal Hyperammonemic Brain Injury from Valproic Acid Exposure [PDF]

, 2012
Background: Hyperammonemia is known to cause neuronal injury, and can result from valproic acid exposure. Prompt reduction of elevated ammonia levels may prevent permanent neurological injury.
Bega, Danny, Boland, Torrey Ann, Chou, Sherry Hsiang-Yi, Murray, Michael, Vaitkevicius, Henrikas   +4 more
core   +2 more sources

Analysis of Catecholamines and Pterins in Inborn Errors of Monoamine Neurotransmitter Metabolism—From Past to Future

Cells, 2019
Inborn errors of monoamine neurotransmitter biosynthesis and degradation belong to the rare inborn errors of metabolism. They are caused by monogenic variants in the genes encoding the proteins involved in (1) neurotransmitter biosynthesis (like tyrosine
Sabine Jung-Klawitter, Oya Kuseyri Hübschmann   +1 more
doaj   +1 more source

Detection of other inborn errors of metabolism in hyperphenylalaninemic babies picked up on narrow-spectrum screening programs

The Turkish Journal of Pediatrics, 2012
In many countries, neonatal screening programs have been unable to expand and have been limited to a few diseases. We highlight herein the opportunity available for the early detection of some inborn errors of metabolism (IEMs) in those countries ...
Ozlem Unal, Burcu Oztürk-Hişmi, Turgay Coşkun, Ayşegül Tokatlı, Ali Dursun, Hatice Serap Sivri   +5 more
doaj   +1 more source

Quantitative amino acid analysis by liquid chromatography‐tandem mass spectrometry using low cost derivatization and an automated liquid handler

JIMD Reports, 2020
Amino acid analysis is central to newborn screening and the investigation of inborn errors of metabolism. Ion‐exchange chromatography with ninhydrin derivatization remains the reference method for quantitative amino acid analysis but offers slow ...
William S. Phipps, Eric Crossley, Richard Boriack, Patricia M. Jones, Khushbu Patel   +4 more
doaj   +1 more source