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Phenotype, genotype and long-term prognosis of 40 Chinese patients with isobutyryl-CoA dehydrogenase deficiency and a review of variant spectra in ACAD8.
Feng J, Yang C, Zhu L, Zhang Y, Zhao X, Chen C, Chen QX, Shu Q, Jiang P, Tong F. Feng J, et al. Orphanet J Rare Dis. 2021 Sep 20;16(1):392. doi: 10.1186/s13023-021-02018-6. Orphanet J Rare Dis. 2021. PMID: 34544473 Free PMC article. Review.
BACKGROUND: Isobutyryl-CoA dehydrogenase deficiency (IBDD) is a rare autosomal recessive metabolic disorder resulting from variants in ACAD8, and is poorly understood, as only dozens of cases have been reported previously. ...
BACKGROUND: Isobutyryl-CoA dehydrogenase deficiency (IBDD) is a rare autosomal recessive metabolic disorder resu …
Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature.
Porta F, Chiesa N, Martinelli D, Spada M. Porta F, et al. J Pediatr Endocrinol Metab. 2019 Feb 25;32(2):101-108. doi: 10.1515/jpem-2018-0311. J Pediatr Endocrinol Metab. 2019. PMID: 30730842 Free article. Review.
Background Short/branched-chain acyl-CoA dehydrogenase (SBCAD) deficiency is a rare inborn error of metabolism with uncertain clinical significance. ...Increased urinary excretion of 2-methylbutyrylglycine (2MBG) is the hallmark of SBCAD deficiency. Methods We repor …
Background Short/branched-chain acyl-CoA dehydrogenase (SBCAD) deficiency is a rare inborn error of metabolism with uncertain clinica …
Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry.
Matern D, He M, Berry SA, Rinaldo P, Whitley CB, Madsen PP, van Calcar SC, Lussky RC, Andresen BS, Wolff JA, Vockley J. Matern D, et al. Pediatrics. 2003 Jul;112(1 Pt 1):74-8. doi: 10.1542/peds.112.1.74. Pediatrics. 2003. PMID: 12837870 Review.
OBJECTIVE: 2-methylbutyryl-CoA dehydrogenase deficiency, also known as short/branched-chain acyl-CoA dehydrogenase (SBCAD) deficiency, is a recently described autosomal recessive disorder of L-isoleucine metabolism. ...Except for 1 patient who developed mild muscle …
OBJECTIVE: 2-methylbutyryl-CoA dehydrogenase deficiency, also known as short/branched-chain acyl-CoA dehydrogenase (SBCAD) deficie …
Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects.
Knerr I, Weinhold N, Vockley J, Gibson KM. Knerr I, et al. J Inherit Metab Dis. 2012 Jan;35(1):29-40. doi: 10.1007/s10545-010-9269-1. Epub 2011 Feb 3. J Inherit Metab Dis. 2012. PMID: 21290185 Free PMC article. Review.
Disorders of branched-chain amino/keto acid metabolism encompass diverse entities, including maple syrup urine disease (MSUD), the 'classical' organic acidurias isovaleric acidemia (IVA), propionic acidemia (PA), methylmalonic acidemia (MMA) and, among others, rarely described di …
Disorders of branched-chain amino/keto acid metabolism encompass diverse entities, including maple syrup urine disease (MSUD), the 'classica …
Biochemical findings in common inborn errors of metabolism.
Pasquali M, Monsen G, Richardson L, Alston M, Longo N. Pasquali M, et al. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):64-76. doi: 10.1002/ajmg.c.30086. Am J Med Genet C Semin Med Genet. 2006. PMID: 16602099 Review.
Here, we review common biochemical findings in disorders caused by deficiency of 3-methylcrotonyl-CoA carboxylase, isobutyryl-CoA dehydrogenase, 2-methyl-3-hydroxybutyryl-CoA dehydrogenase, 3-ketothiolase, 2-methylbutyryl-CoA dehydrogenase, and medium …
Here, we review common biochemical findings in disorders caused by deficiency of 3-methylcrotonyl-CoA carboxylase, isobutyryl- …
Inborn errors of isoleucine degradation: a review.
Korman SH. Korman SH. Mol Genet Metab. 2006 Dec;89(4):289-99. doi: 10.1016/j.ymgme.2006.07.010. Epub 2006 Sep 6. Mol Genet Metab. 2006. PMID: 16950638 Review.
Tandem MS analysis of acylcarnitines may reveal elevated C5 (SBCAD) or C5:1 and/or OH-C5 species (MHBD and beta-KT deficiencies) but the abnormalities are non-diagnostic and may be intermittent or absent. ...The role of treatment in SBCAD deficiency remains unclear …
Tandem MS analysis of acylcarnitines may reveal elevated C5 (SBCAD) or C5:1 and/or OH-C5 species (MHBD and beta-KT deficiencies) but …