3-methylglutaconic aciduria type Ⅰ due to AUH defect:A case report
Objective To investigate the clinical and genetic characteristics of 3-methylpentenediaciduria type Ⅰcaused by AUH gene variation.Methods The clinical and molecular biological characteristics of a child with 3-methylpent-endiaciduria type Ⅰ screened by Xuzhou Neonatal Disease Screening Center in February 2019.Results The girl was born by Cesarean section at full term.Neonatal screening results showed an abnormal increasing of C4DC+C5-OH,and reexamination indicated suspected 3-methylglutaconic aciduria type Ⅰ.The AUH gene c.895-3C＞G(/)and c.667C＞T(p.R223*)dual-site com-plex heterozygous variants,and ACAT1 gene c.42C＞T(p.S14S)heterozygous mutations were detected.Both parents were het-erozygous carriers with 3-methylglutaconic aciduria type Ⅰ.She was followed up to 4 years and 2 months of age.Conclusion The clinical manifestations of children with 3-methylglutaconic aciduria type Ⅰ are significantly heterogeneous,and the sever-ity of the disease varies.Splicing mutation is the most common type of gene mutation.Long-term leucine-restricted diet com-bined with oral L-carnitine treatment is effective for some children.As far as this disease is concerned,neonatal genetic metabolic disease screening can help early treatment and early diagnosis and improve the prognosis of the patients.
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