Your browser doesn't support javascript.
loading
[Analysis of disease spectrum for abnormal 3-hydroxyisovalerylcarnitine metabolism identified through newborn screening and clinical diagnosis].
Yang, Yi; Qiu, Wenjuan; Zhang, Huiwen; Liang, Lili; Lu, Deyun; Zhang, Kaichuang; Chen, Ting; Xu, Feng; Gu, Xuefan; Han, Lianshu.
Afiliação
  • Yang Y; Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, Shanghai 200092, China. hanlianshu@xinhuamed.com.cn.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 40(12): 1466-1471, 2023 Dec 10.
Article em Zh | MEDLINE | ID: mdl-37994125
ABSTRACT

OBJECTIVE:

To explore the disease spectrum for abnormal 3-hydroxyisovalerylcarnitine (C5OH) metabolism identified through newborn screening and clinical diagnosis patients and the key points for differential diagnosis so as to raise the awareness of pediatricians for such diseases.

METHODS:

Clinical data of 85 neonates with abnormal C5OH metabolism identified from February 2004 to January 2022 at Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine were collected. Their clinical manifestations and results of tandem mass spectrometry (MS/MS), gas chromatography mass spectrometry (GC-MS) and genetic testing were retrospectively analyzed.

RESULTS:

Among the 85 cases, 46 (54.1%) were identified by neonate screening, whilst 39 (45.9%) were clinically diagnosed patients. Five diseases were diagnosed, including 28 cases with multiple carboxylase deficiency (MCD, 32.9%), 29 cases with 3-methylcrotonyl-coenzymeAcarboxylasedeficiency (MCCD, 34.1%), 4 cases with 3-methylglutaconic acid (3-MGA, 4.7%), 7 cases with 3-hydroxy-3-methylglutaric acid (3-HMG, 8.2%), and 17 cases with beta-ketothiolase deficiency (BKD, 20.0%). The disorders were characterized by sudden onset, anorexia, vomiting, diarrhea, abnormal breathing, consciousness disorder, spasm and developmental delay.

CONCLUSION:

Among newborns with abnormal C5OH metabolism, MCCD is the most common disorder, which was followed by BKD and MCD. For patients with abnormal C5OH metabolism, MCD is the most common, followed by BKD and 3-HMG. C5OH related diseases have great heterogeneity. Combination of blood acylcarnitine levels, urinary organic acid levels and genetic testing based on clinical characteristics can help to attain the diagnosis.
Assuntos

Texto completo: 1 Coleções: 01-internacional Contexto em Saúde: 3_ND / 4_TD Base de dados: MEDLINE Assunto principal: Triagem Neonatal / Espectrometria de Massas em Tandem Limite: Humans / Newborn País/Região como assunto: Asia Idioma: Zh Revista: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Contexto em Saúde: 3_ND / 4_TD Base de dados: MEDLINE Assunto principal: Triagem Neonatal / Espectrometria de Massas em Tandem Limite: Humans / Newborn País/Região como assunto: Asia Idioma: Zh Revista: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Ano de publicação: 2023 Tipo de documento: Article