Results 1 to 10 of about 9,587 (206)

Citrullinemia and Hyperglycinemia Presenting with Seizures - Case Report of a 4 Day Old Baby

Asian Journal of Medical Sciences, 2013
Inborn errors of amino acid metabolism (IEM) are of concern in India, the spectrum being wide, varied and poorly diagnosed. Since aggregate incidence of inborn errors of metabolism is relatively high, in countries such as India, a high degree of ...
Moushumi Lodh
doaj   +1 more source

Ketogenic diet in action: Metabolic profiling of pyruvate dehydrogenase deficiency

Molecular Genetics and Metabolism Reports, 2023
The pyruvate dehydrogenase complex serves as the main connection between cytosolic glycolysis and the tricarboxylic acid cycle within mitochondria. An infant with pyruvate dehydrogenase complex deficiency was treated with vitamin B1 supplementation and a
Eri Ogawa, Takako Hishiki, Noriyo Hayakawa, Hisato Suzuki, Kenjiro Kosaki, Makoto Suematsu, Toshiki Takenouchi   +6 more
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Non-Enzymatic Formation of N-acetylated Amino Acid Conjugates in Urine

Applied Sciences, 2023
Unknown N-acylated amino acid (N-AAA) conjugates have been detected in maple syrup urine disease (MSUD) and other inborn errors of metabolism (IEMs). This study aimed to elucidate the mechanism behind the formation of urinary N-AAA conjugates.
Jano Jacobs, Cornelia Gertina Catharina Elizabeth van Sittert, Lodewyk Japie Mienie, Marli Dercksen, Monique Opperman, Barend Christiaan Vorster   +5 more
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Out-of-pocket health expenditures in patients living with ınborn errors of metabolism

Orphanet Journal of Rare Diseases, 2023
Aim The implementation of newborn screening programs for inborn errors of metabolism has advanced the diagnosis and management of affected infants and undoubtedly improved their outcomes.
Mehmet Gündüz, Yasemin Yüksel Güdek, Çiğdem Seher Kasapkara   +2 more
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Fifteen years experience: Egyptian metabolic lab

Egyptian Journal of Medical Human Genetics, 2014
Background: Inborn errors of metabolism (IEM) are single gene disorders responsible for abnormalities in the synthesis or catabolism of proteins, carbohydrates and fats by means of defective enzymes or transport proteins which results in a block of the ...
Ekram M. Fateen, Amr S. Gouda, Mona M. Ibrahim, Zeinab Y. Abdallah   +3 more
doaj   +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

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

AminoApp: The First Brazilian Application for Dietary Monitoring of Inborn Errors of Metabolism in Patients on a Low-Protein Diet [PDF]

Healthcare Informatics Research
Objectives Disorders of amino acid metabolism fall under the category of inborn errors of metabolism that can be managed with a protein-restricted diet.
Bianca Fasolo Franceschetto, Júlia Montim Orlandi, Wanessa de Carvalho Rosa, Mariana Lima Scortegagna, Lilia Farret, Ida V. D. Schwartz, Soraia Poloni   +6 more
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Inborn Errors of Sulfur-Containing Amino Acid Metabolism [PDF]

The Journal of Nutrition, 2006
Two superimposed metabolic sequences, transsulfuration and the methionine/homocysteine cycle, form the pathway for methionine metabolism in mammalian liver. This combined pathway was formulated first to explain observations in subjects with homocystinuria caused by cystathionine synthase deficiency.
openaire   +2 more sources

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
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