Clinical, biochemical and metabolic characterization of patients with short-chain enoyl-CoA hydratase(ECHS1) deficiency: two case reports and the review of the literature

• Published in: BMC pediatrics Vol. 20; no. 1; p. 50
• Main Authors: Yang, Hua, Yu, Dan
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 03.02.2020; BioMed Central; BMC
• Subjects: Acetylcysteine; Amino acids; Birth weight; Care and treatment; Case Report; Case reports; Case studies; Characterization; Child, Preschool; Childhood; Criminal investigation; Cystine; Dehydrogenases; Diagnosis; Diagnostic imaging; Dietary supplements; Disease; Diseases; Dystonia; Electrolytes; Enoyl-CoA Hydratase - genetics; Enzymes; Genes; Genetic disorders; Heterozygote; Homozygote; Humans; Inborn errors of metabolism; Intellectual disabilities; Kinases; Leigh Disease - diagnosis; Leigh Disease - drug therapy; Leigh Disease - genetics; Malnutrition; Metabolism; Metabolites; Mutation; Patients; Pediatric research; Phenotype; Seizures (Medicine); Short-chain enoyl-CoA hydratase deficiency, ECHS1,urinary metabolic profile; Urine; China; Short-chain enoyl-CoA hydratase deficiency, ECHS1,urinary metabolic profile
• ISSN: 1471-2431; 1471-2431
• DOI: 10.1186/s12887-020-1947-z

Short-chain enoyl-CoA hydratase (SCEH or ECHS1) deficiency is a rare congenital metabolic disorder caused by biallelic mutations in the ECHS gene. Clinical phenotype includes severe developmental delay, regression, dystonia, seizures, elevated lactate, and brain MRI abnormalities consistent with Leigh syndrome (LS). SCEH is most notably involved in valine catabolism. There is no effective treatment for the disease, patients may respond to dietary restriction of valine and supplementation of N-acetylcysteine . We describe two patients who presented in infancy or early childhood with SCEH deficiency. Both patients were shown to harbor heterozygous or homozygous variants in the ECHS1 gene, and developmental retardation or regression as the onset manifestation. Brain MRI showed abnormal signals of bilateral pallidus. Urine metabolic examination showed increased levels of 2,3-dihydroxy-2-methylbutyric acid and S-(2-carboxypropyl) cysteamine S-(2-carboxypropoxypropyl) cysteamine (SCPCM). A valine restricted diet and combined of N-acetylcysteine supplementation were utilized in the two patients. In clinical practice, The elevated urinary 2,3-dihydroxy-2-methylbutyrate, S-(2-carboxypropyl) cysteine, S-(2-carboxypropyl) cysteine and N-acetyl-S-(2-carboxypropyl) cysteine levels might be clues for diagnosis of SCEH deficiency which can be confirmed throughGenetic sequencing of ECHS1 gene. Early cocktail therapy, valine restrictied diet and N-acetylcysteine supplementation could improve the prognosis of patients.