title: Retrospective study of patients with suspected inborn errors of metabolism at Siriraj Hospital, Bangkok, Thailand (1997-2001).
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand.
authors.forename: Pornswan
authors.initials: P
authors.lastname: Wasant
authors.forename: Nithiwat
authors.initials: N
authors.lastname: Vatanavicharn
authors.forename: Chantragan
authors.initials: C
authors.lastname: Srisomsap
authors.forename: Phannee
authors.initials: P
authors.lastname: Sawangareetrakul
authors.forename: Somporn
authors.initials: S
authors.lastname: Liammongkolkul
authors.forename: Jisnuson
authors.initials: J
authors.lastname: Svasti
mesh_terms: D000367:Age Factors; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000453:epidemiology / Q000503:physiopathology; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D012189:Retrospective Studies; D013785:Thailand / Q000453:epidemiology