Application of Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS) in Screening of High Risk Children with Inherited Metabolic Diseases in Northern China
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Wenjun Tu
ABSTRACT
Objective: To investigate the morbidity and distribution of 35 inherited metabolic diseases in high risk children by LC-MS/MS in northern China.
Methods: The dry blood on filter papers, collected from 2760 children clinically suspected to have inherited metabolic diseases from more than sixty hospitals in north China, was tested by LC-MS/MS. The specimen was extracted out of the dry blood on filter paper, derivatized before being injected into LC-MS/MS. The LC-MS/MS methodology used in the study was transferred from Pediatrix Medical Group (1301 Concord Terrace, Sunrise, FL 33323), validated in our lab and further compared with United States CDC standard. The positive results were further confirmed by gas chromatography-mass, other laboratory tests and clinical symptoms.
Results: 249 of the 2760 children (9%) were diagnosed with one or more of twenty-one disorders. Out of 249 patients, there are 41 (16.5%) fatty acid disorders, 71 (28.5%) amino acid diseases, and 137 (55%) organic acidemias. 48 of the 249 patients (19.3%) were neonates, including 11 (22.9%) with fatty acid disorders, 15 (31.3%) with amino acid diseases, and 22 (45.8%) with organic acidemias. 201 of the 249 patients were elder than 28 days, and was composed of 30 (14.9%) with fatty acid disorders, 56 (27.9%) with amino acid diseases, 115 (57.2%) with organic acidemias.
Conclusions: The LC-MS/MS technology can be used to detect over 30 inherited metabolic disorders for Chinese pediatric clinic in a single collection of blood. The morbidity of IMD (9%) is relatively high among high risk children, thus we highly suggest that we shall provide initial screening of over 30 IMDs for the high risk children in China using the technology of LC-MS/MS.
© Freund Publishing House Ltd. 2010
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Articles in the same Issue
- Congenital Adrenal Hyperplasia (CAH) a Wolf in a Rabbits' Fur
- Endogenous Hyperandrogenism and Exercise Capacity Lessons from the Exercise-Congenital Adrenal Hyperplasia Model
- A Child with Cushing's Syndrome – Etiological Clue from Adrenal Imaging (Pediatric Cushing's Syndrome)
- Polycystic Ovaries and Adrenal Insufficiency in a Young Pubescent Female with Lipoid Congenital Adrenal Hyperplasia Due to Splice Mutation of the StAR Gene: A Case Report and Review of the Literature
- Does Fat Fuel the Fire: Independent and Interactive Effects of Genetic, Physiological, and Environmental Factors on Variations in Fat Deposition and Distribution across Populations
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- Relationship Between Aminotransferases Levels and Components of the Metabolic Syndrome Among Multiethnic Adolescents
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- Incidental Finding of Idiopathic Unilateral Adrenal Calcification in an 18-Month-Old Child: Case Report and Review of the Literature
