Analytical platform for metabolome analysis of microbial cells using methyl chloroformate derivatization followed by gas chromatography–mass spectrometry

2010 ◽  
Vol 5 (10) ◽  
pp. 1709-1729 ◽  
Author(s):  
Kathleen F Smart ◽  
Raphael B M Aggio ◽  
Jeremy R Van Houtte ◽  
Silas G Villas-Bôas
Keyword(s):  
Mass Spectrometry ◽  
Gas Chromatography ◽  
Gas Chromatography Mass Spectrometry ◽  
Metabolome Analysis ◽  
Microbial Cells ◽  
Chromatography Mass Spectrometry ◽  
Methyl Chloroformate Derivatization

Diagnosis of gastroenterological diseases by metabolome analysis using gas chromatography–mass spectrometry

2011 ◽  
Vol 47 (1) ◽  
pp. 9-20 ◽  
Author(s):  
Masaru Yoshida ◽  
Naoya Hatano ◽  
Shin Nishiumi ◽  
Yasuhiro Irino ◽  
Yoshihiro Izumi ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Gas Chromatography ◽  
Gas Chromatography Mass Spectrometry ◽  
Metabolome Analysis ◽  
Chromatography Mass Spectrometry

Late diagnosis of 3β-Hydroxysteroid dehydrogenase deficiency: the pivotal role of gas chromatography-mass spectrometry urinary steroid metabolome analysis and a novel homozygous nonsense mutation in the HSD3B2 gene

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Pavlos Fanis ◽  
Vassos Neocleous ◽  
Konstantina Kosta ◽  
Aristea Karipiadou ◽  
Michaela F. Hartmann ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Gas Chromatography ◽  
Nonsense Mutation ◽  
Hydroxysteroid Dehydrogenase ◽  
Gas Chromatography Mass Spectrometry ◽  
Team Approach ◽  
Metabolome Analysis ◽  
Rare Type ◽  
Chromatography Mass Spectrometry ◽  
Urinary Steroid

AbstractObjectives3β-Hydroxysteroid dehydrogenase (3β-HSD) deficiency is a rare type of congenital adrenal hyperplasia caused by recessive loss-of-function mutations in HSD3B2 gene.Case presentationWe report an 8.5-year-old, 46XY, Roma boy with advanced adrenarche signs born to consanguineous parents. He was born at term with ambiguous genitalia. At 15 days of age, he underwent replacement therapy with hydrocortisone and fludrocortisone due to a salt wasting (SW) crisis and adrenal insufficiency. At 3.5 years, he was admitted again with SW crisis attributed to the low – unadjusted to body surface area – hydrocortisone dose and presented with bilateral gynecomastia and adrenarche. At 8.5 years, his bone age was four years more advanced than his chronological age and he was prepubertal, with very high testosterone levels. Gas chromatography-mass spectrometry (GC-MS) urinary steroid metabolome analysis revealed the typical steroid metabolic fingerprint of 3β-HSD deficiency. Sequencing of the HSD3B2 gene identified in homozygosity the novel p.Lys36Ter nonsense mutation. Furthermore, this patient was found to be heterozygous for p.Val281Leu in the CYP21A2 gene. Both parents were identified as carriers of the p.Lys36Ter in HSD3B2.ConclusionsA novel nonsense p.Lys36Ter mutation in HSD3B2 was identified in a male patient with hypospadias. 3β-HSD deficiency due to mutations in the HSD3B2 gene is extremely rare and the finding of a patient with this rare type of disorders of sex development (DSD) is one of the very few reported to date. The complexity of such diseases requires a multidisciplinary team approach regarding the diagnosis and follow-up.

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