A report of two families with sarcosinaemia in Hong Kong and revisiting the pathogenetic potential of hypersarcosinaemia
Annals of the Academy of Medicine, Singapore
;
: 582-584, 2006.
Article
in English
| WPRIM
| ID: wpr-275304
ABSTRACT
<p><b>INTRODUCTION</b>Sarcosinaemia is a rare metabolic disorder which has not been reported in Asia.</p><p><b>CLINICAL PICTURE</b>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.</p><p><b>CONCLUSION</b>Our finding was consistent with the notion that sarcosinaemia is a benign condition picked up coincidentally during screening for mental retardation.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Sarcosine
/
Urine
/
Blood
/
China
/
Family Health
/
Diagnosis
/
Sarcosine Dehydrogenase
/
Ethnology
/
Amino Acid Metabolism, Inborn Errors
/
Hong Kong
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Child
/
Child, preschool
/
Female
/
Humans
Country/Region as subject:
Asia
Language:
English
Journal:
Annals of the Academy of Medicine, Singapore
Year:
2006
Type:
Article
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