Urinary succinylacetone presence and delta-aminolaevulinic acid excretion in patients with type I tyrosinaemia during treatment.

In a group of 5 patients it was found that the presence of succinylacetone in urine as well as increased urinary excretion of delta-aminolaevulinic acid are a good criterion for the diagnosis of type I tyrosinaemia, and may serve for monitoring of the effectiveness of treatment with low-tyrosine diet. Determination of tyrosine levels in blood and urine by the semiquantitative method may be deceptive.

Anodontia as the sole clinical sign of the ectrodactyly-ectodermal dysplasia-cleft lip (EEC) syndrome.

In this report we present another family with oligosymptomatic expression of the EEC syndrome. A mother with complete absence of the permanent teeth had two children with split hand/split foot deformity, as typically seen in the EEC syndrome. Cleft lip/cleft palate was also present in one of them.