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Clinical, biochemical, and genetic analysis of a Chinese Han pedigree with holocarboxylase synthetase deficiency: a case report.
Zheng Z, Yuan G, Zheng M, Lin Y, Zheng F, Jiang M, Zhu L, Fu Q. Zheng Z, et al. BMC Med Genet. 2020 Jul 29;21(1):155. doi: 10.1186/s12881-020-01080-4. BMC Med Genet. 2020. PMID: 32727382 Free PMC article.
BACKGROUND: Holocarboxylase synthetase (HLCS) deficiency is a rare inborn disorder of biotin metabolism, which results in defects in several biotin-dependent carboxylases and presents with metabolic ketoacidosis and skin lesions. CASE PRESENTATION: In this paper, we …
BACKGROUND: Holocarboxylase synthetase (HLCS) deficiency is a rare inborn disorder of biotin metabolism, which results in defects in several …
Biotransformation of acetone to isopropanol observed in a motorist involved in a sobriety check.
Jones AW, Andersson L. Jones AW, et al. J Forensic Sci. 1995 Jul;40(4):686-7. J Forensic Sci. 1995. PMID: 7595310
The man admitted drinking moderate amounts of alcohol (vodka) the previous evening and was being treated by his doctor for hyperglycemia by special dietary control. This case scenario provides a good example of severe metabolic ketoacidosis in an ostensibly healthy …
The man admitted drinking moderate amounts of alcohol (vodka) the previous evening and was being treated by his doctor for hyperglycemia by …
Multiple carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment.
Wolf B, Hsia YE, Sweetman L, Feldman G, Boychuk RB, Bart RD, Crowell DH, Di Mauro RM, Nyhan WL. Wolf B, et al. Pediatrics. 1981 Jul;68(1):113-8. Pediatrics. 1981. PMID: 6787561
Multiple carboxylase deficiency is characterized by deficient activities of three biotin-dependent enzymes, propionyl coenzyme A carboxylase, pyruvate carboxylase, and beta-methylcrotonyl coenzyme A carboxylase. A newborn infant was seen with metabolic ketoacidosis, …
Multiple carboxylase deficiency is characterized by deficient activities of three biotin-dependent enzymes, propionyl coenzyme A carboxylase …