title: A new case of malonyl-CoA decarboxylase deficiency with mild clinical features.
abstract: Malonyl-CoA decarboxylase deficiency is an extremely rare autosomal recessive inborn error of fatty acid metabolism. It usually follows a severe disease course and presents poor prognosis without treatment. Here, we report an affected female juvenile with a mild clinical and biochemical phenotype who mainly featured poor schooling without cardiomyopathy and metabolic acidosis. She was suspected of malonyl-CoA decarboxylase deficiency due to a 57-kb deletion in 16q23.3 encompassing the MLCYD gene revealed by chromosome microarray. Malonyl-CoA decarboxylase deficiency was then confirmed by acylcarnitine analysis and organic acid analysis. Real-time PCR analysis of the patient revealed the first three exon deletion of the MLYCD gene, which was maternally inherited. DNA sequencing of the MLYCD gene of the patient identified a novel heterozygous mutation (c.911G>A, p.G304E) in exon 4 that was paternally inherited. The patient urine malonic acid dissolved and had a better school record in 6 month after initiation of fat-limited diet. At 1 year post treatment, the blood malonylcarnitine level decreased remarkably. Our result expands the phenotype of malonyl-CoA decarboxylase deficiency and suggests attentions should be paid to the mild form of disorders, for example, malonyl-CoA decarboxylase deficiency, which usually present a severe disease course.
authors: Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
authors: Huan
authors: H
authors: Liu
authors: Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
authors: Dongqiong
authors: D
authors: Tan
authors: Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
authors: Lianshu
authors: L
authors: Han
authors: Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
authors: Jun
authors: J
authors: Ye
authors: Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
authors: Wenjuan
authors: W
authors: Qiu
authors: Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
authors: Xuefan
authors: X
authors: Gu
authors: Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
authors: Huiwen
authors: H
authors: Zhang
mesh_terms: D000138:Acidosis / Q000235:genetics* / Q000503:physiopathology; D000293:Adolescent; D001483:Base Sequence; D002262:Carboxy-Lyases / Q000172:deficiency* / Q000235:genetics; D009202:Cardiomyopathies / Q000235:genetics / Q000503:physiopathology; D002648:Child; D002875:Chromosomes / Q000235:genetics; D005091:Exons; D005260:Female; D006801:Humans; D008314:Malonates / Q000378:metabolism; D008316:Malonyl Coenzyme A / Q000235:genetics; D008661:Metabolism, Inborn Errors / Q000235:genetics* / Q000503:physiopathology; D008764:Methylmalonic Acid; D046228:Microarray Analysis; D017384:Sequence Deletion
chemical_list: D008314:Malonates; D008316:Malonyl Coenzyme A; D008764:Methylmalonic Acid; C030290:malonic acid; D002262:Carboxy-Lyases; C021532:malonyl-CoA decarboxylase
keywords: malonic aciduria; malonyl-CoA decarboxylase deficiency; mutation