EARLY CLINICAL SYMPTOMS AND INCIDENCE OF ASPARTYLGLUCOSAMINURIA IN FINLAND

Early clinical symptoms were analyzed from all known 43 children with aspartylglucosaminuria, born during 1974-1989 in Finland. Pre- and per inatal histories appeared normal for all children, except for muscular hypotonia and weak sucking in some babies. Three infants had abductio n stiffness in the hips, needing follow-up. Other abnormalities found in infancy were umbilical or inguinal hernias and unusual susceptibili ty to respiratory and ear infections. This susceptibility diminished c learly in most patients after six years of age. Episodic diarrhea, des cribed earlier, appeared to be a rather infrequent symptom and a less valuable diagnostic clue. New clinical phenomena were talipes planoval gus or clubfoot, needing surgical treatment, and aggressive behavior, needing, occasionally, child psychiatric consultation or treatment. In addition, angiokeratoma of the skin, not an infrequent phenomenon amo ng adult patients, was found in one child. The main indications for fu rther studies were delayed speech, attention deficit and clumsy or del ayed motor functions. The disease is easily misdiagnosed and, universa lly, probably underdiagnosed. Its incidence in Finland was recalculate d and appeared to be at least 1 in 18 500 live-born babies in this cou ntry.