Research Article iMedPub Journals Journal of Rare Disorders: Diagnosis & Therapy 2016 http://www.imedpub.com/ ISSN 2380-7245 Vol. 2 No. 5: 20 DOI: 10.21767/2380-7245.100049 Biochemical Characterisation and Whole Zandberg L1, Erasmus E1, Suormala T2,3, Mienie LJ1, Genome Expression Profiling of Cultured Skin Mels CMC4 and Van Dijk AA1 Fibroblasts from Two South African Adults 1 Biochemistry, Focus Area Human with Urinary 3-Hydroxyisovaleric Acid and Metabolomics, North-West University, 3-Methylcrotonylglycine Potchefstroom, South Africa 2 Division of Metabolism, University Children's Hospital, Zurich, Switzerland 3 Metabolic Unit, University Children's Abstract Hospital, Basel, Switzerland 4 Hypertension in Africa Research Team, We report on the first case of marginal 3-methylcrotonyl-CoA carboxylase North-West University, Potchefstroom, (MCC) deficiency in South Africa. Urinary 3-hydroxyisovaleric acid and South Africa 3-methylcrotonylglycine were detected in four males of a non-consanguineous family. Only the index patient (NWU001) had non-specific symptoms, the others were asymptomatic. The inherited metabolite profile and partially reduced MCC Corresponding author: activity were indicative of marginal MCC deficiency. In vivo L-leucine loading Van Dijk AA confirmed a reduced flux through the leucine degradation pathway. No known deleterious mutations were detected in the open reading frames of MCCC1 and
[email protected] MCCC2. NWU001 was heterozygous for a SNP in MCCC1 (rs2270968; c.1391A>C, p.H464P). NWU002 was heterozygous for a MCCC2 splice variant which skips exon Biochemistry Division, North-West 7 and causes an in frame deletion of 38 amino acids that is identical to a predicted University, Private Bag X6001 Noordbrug, shorter MCCC2 isoform-2 (Q9HCC0-2).