Department of Chemical Pathology, Prince of Wales Hospital, The Chinese University of Hong Kong

Up until the end of 1999, more than 40 patients and families with 20 different biochemical diagnoses have been diagnosed or attended the Joint Metabolic Clinic in Prince of Wales Hospital. They include: glutaric aciduria type I (3), propionic acidemia (1), multiple carboxylase deficiency (1), other organic acidemias (2), disorders of carbohydrate metabolism: galactosemia (1), glycogen storage diseases (3), disorders of fatty acid oxidation: glutaric aciduria type II (multiple acylCoA dehydrogenase deficiency) (4), carnitine transporter defect (1), 3-hydroxy-3-methyglutaryl CoA lyase deficiency (1) and CPT-2 (1), urea cycle disorders: ornithine transcarbamylase deficiency (2), mitochondrial disorders: complex I deficiency (1), Pearson Kearns Sayre syndrome (1), other storage disorders: mucopolyssacharidosis type I (3), mucopolyssacharidosis type II (1), mucopolyssacharidosis type III (2), mucolipidoses type II (I-cell disease) (2), Niemann Pick type C (1), Peroxisomal disorders: X-linked adrenoleukodystrophy (4), Zellweger syndrome (1), disorders of transport and mineral metabolism: cystinuria (2).

An inborn error of metabolism is a significant cause of mortality and morbidity among paediatric patients and is underdeveloped in Hong Kong. Unfortunately curative treatment is largely lacking. However, early diagnosis will help both the patient and the family. The various investigations leading to the diagnosis and advances in understanding of diseases will be discussed.