title: Mild form of 3-methylglutaconic aciduria type IV and mutation in the TMEM70 genes.
abstract: The case study presents a 3-year-old boy diagnosed with a mild form of 3-methylglutaconic aciduria. During infancy and early childhood, he had lactic acidosis, dilated cardiomyopathy and failure to thrive with growth retardation. A genetic analysis revealed a mutated TMEM70 gene.
authors: Institute for Child and Youth Health Care of Vojvodina, Novi Sad, Serbia. vsnefro@gmail.com
authors: Vesna
authors: V
authors: Stojanović
authors: Aleksandra
authors: A
authors: Doronjski
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics*; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation / Q000502:physiology; D010641:Phenotype; D012720:Severity of Illness Index
chemical_list: D008565:Membrane Proteins; D024101:Mitochondrial Proteins; C533106:TMEM70 protein, human