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Title: Retrospective study of patients with suspected inborn errors of metabolism at Siriraj Hospital, Bangkok, Thailand (1997-2001)
Authors: Pornswan Wasant
Nithiwat Vatanavicharn
Chantragan Srisomsap
Phannee Sawangareetrakul
Somporn Liammongkolkul
Jisnuson Svasti
Mahidol University
Keywords: Medicine
Issue Date: 1-Jun-2005
Citation: Journal of the Medical Association of Thailand. Vol.88, No.6 (2005), 746-753
Abstract: Introduction: This retrospective clinical study was carried out on patients with suspected inborn errors of metabolism (IEM) at Siriraj Hospital during 1997-2001. The authors investigated 114 patients by quantitative plasma amino acid analysis. Objective: The objective of this study was to collect and analyze epidemiologic and specific clinical data of IEM, especially in small-molecule diseases. Material and Method: All patients were categorized into 2 major groups: 1) positive diagnoses for IEM 2) negative diagnoses for IEM. The two groups were investigated, studied including statistical analysis. Results: The authors found that most IEM ascertained through plasma amino acid analysis were small-molecule diseases (74.3%) and amino acid disorders consisted of the most frequent disorders. The presented data demonstrated that the ratio of positive diagnoses to all patients studied was 1:8. Epidemiological data showed there were more male than female patients. Onset of diseases occurred predominantly during the first month of age, and was rarely found after 3 years of age. There were histories of consanguinity in half of the IEM patients. The most common presenting symptom was acute metabolic encephalopathy and specific signs for small-molecule disorders included hepatomegaly, unusual urine odor, acidosis, hyperammonemia, alteration of consciousness, and ketosis/ketonuria. These signs or symptoms indicated further metabolic investigations. Conclusion: Comparison of the data from Thailand with other countries showed both similarities and differences to the Caucasian population. Thus, further studies in IEM are much needed for the Thai population.
ISSN: 01252208
Appears in Collections:Scopus 2001-2005

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