| Autor: |
Shing-Yan, Lee, Kwok-Yin, Chan, Albert Y W, Chan, Chi-Kong, Lai |
| Rok vydání: |
2006 |
| Předmět: |
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| Zdroj: |
Annals of the Academy of Medicine, Singapore. 35:582-584 |
| ISSN: |
0304-4602 |
| DOI: |
10.47102/annals-acadmedsg.v35n8p582 |
| Popis: |
Introduction: Sarcosinaemia is a rare metabolic disorder which has not been reported in Asia. Clinical Picture: The urine samples of 2 patients were screened as a routine metabolic screening offered for patients with mental retardation in our hospital. We used gas chromatography-mass spectrometry (GC-MS) which is capable of detecting abnormal pattern in amino acids and organic acids. Plasma sarcosine level was further quantified by GC-MS. The same methods were used in the investigations of asymptomatic family members. Urine examination by GC-MS revealed excessive amount of sarcosine in urine (normally undetectable) and their plasma sarcosine levels were raised. The 2 differential diagnoses of presence of sarcosine in urine – glutaric aciduria type II and folate deficiency – were ruled out by the absence of abnormal organic acids in the initial urine screen and by normal serum folate level respectively. Screening of the 2 families identified excessive sarcosine in urine in 2 siblings, one from each family. However, these 2 siblings of indexed patients thus identified have no neurological or developmental problem. Conclusion: Our finding was consistent with the notion that sarcosinaemia is a benign condition picked up coincidentally during screening for mental retardation. Key words: Gas chromatography-mass spectrometry, Hypersacosinaemia, Sarcosine, Sarcosine dehydrogenase |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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