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Clinical and molecular analysis of 6 Chinese patients with isoleucine metabolism defects: identification of 3 novel mutations in the HSD17B10 and ACAT1 gene.

Metabolic brain disease - 1 Dec 2017

Su Ling, Li Xiuzhen, Lin Ruizhu, Sheng Huiying, Feng Zhichun, Liu Li

Abstract excerpt

Hydroxysteroid (17β) dehydrogenase 10 (HSD10) and mitochondrial acetoacetyl-CoA thiolase (β-KT) are two adjacent enzymes for the degradation of isoleucine, thus HSD10 and β-KT deficiencies are confusing at an early stage because of nearly the same elevation of typical metabolites in urine, such as 2-methyl-3-hydroxybutyric acid (2M3HBA) and tiglylglycine (TG). In order to better understand the differences between...

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Share to 3-Hydroxyacyl CoA Dehydrogenases
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28875337
DOI: 10.1007/s11011-017-0097-y

Genes

ACAT1

Variants

Provenance

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Clinical and molecular analysis of 6 Chinese patients with isoleucine metabolism defects: identification of 3 novel mutations in the HSD17B10 and ACAT1 gene.PMID 28875337Read ↗

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