Hypoplasia of Tooth in Children with Inborn Errors of Metabolism

For the investigation of the clinical dental manifestations of inborn errors of metabolism, the oral examination of twenty one children aged from 5 months to 15 years 5 months was performed at the pediatric clinic of inborn errors of metabolism. The results were as follows: 1. In six of seven histidinemia patients, white spots, pit or hypoplasia of enamel, fused teeth, peg teeth or abnormal tubercles were observed. 2. In a patient with GM1-gangliosidosis, the upper and lower central incisors had severe white spots. 3. In one patient with osteopetrosis, one of two glycogenosis type IX and one of two homocystinuria patients, white spots or hypoplasia of enamel were observed. 4. One patient with hypophosphatemic vitamin D-resistant ricket, one with vitamin D-dependent ricket type II and one with galactosemia patient had no enamel hypoplasia. It was strongly suggested that there is a specific relationship of histidinemia and GM1-gangliosidosis to dental manifestations.