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Summary
THYMIDYLATE KINASE DEFICIENCY (NEW DISEASE?)
DTYMK
188345
OMIM = Online Medalian Inheritance of Men
---
2q37.3
very rare

symptoms
growth retardation, poor growth
microcephaly (<2 SD for age)
onset, infancy
white matter changes, abnormalities
laboratory finding
MRI, brain, white matter abnormalities -
Literature
Kato S,et al.Pitfall in the Diagnosis of Fructose-1,6-Bisphosphatase Deficiency: Difficulty in Detecting Glycerol-3-Phosphate with Solvent Extraction in Urinary GC/MS AnalysisTohoku J Exp Med2373235-2392015
Iga M,et al.Rapid, simplified and sensitive method for screening fructose-1,6-diphosphatase deficiency by analyzing urinary metabolites in urease/direct preparations and gas chromatography-mass spectrometry in the selected-ion monitoring modeJ Chromatogr B Biomed Sci Appl746175-822000