Skip to main content

Table 2 Analysis of organic acid in urine by GC/MS

From: Clinical diagnosis and mutation analysis of four Chinese families with succinic semialdehyde dehydrogenase deficiency

Metabolites

Case1

Case2

Case 3

Case 4

Reference range

4-hydroxybutyric acid

1.533

4.887

2.178

9.603

< 0.001

3,4-dihydroxybutanoic acid

1.695

9.073

1.796

16.173

< 0.895

2,4-dihydroxybutanoic acid

0.549

1.425

0.788

8.216

< 0.208

4,5-dihydroxyhexanoic acid

0.958

6.320

1.548

4.197

< 0.001

  1. Value: metabolite peak area ratio to creatinine
Back to article page

BMC Medical Genetics

ISSN: 1471-2350

Contact us