A longitudinal study of phenylketonuria based on the data of the Budapest Screening Center

Abstract

Between 1975 and 1994 about 1.5 million neonates were screened by Guthrie tests at the phenylketonuria (PKU) Centre in Budapest. In this period 160 children with PKU were found. The corresponding incidence rate is about 1:9000. In a cumulative longitudinal design we investigated 56 patients with classical PKU between the ages of 3 months and 20.5 years. Treatment started at a mean age of 16.9 days (SD = 8.8). On average, pretreatment phenylalanine (Phe) levels were 1956 mumol/l (SD = 864), measured with the fluorometric method. Their Phe levels, physical growth, intellectual development, and performances in achievement tests were analysed. For the entire sample 45% of half year median Phe levels were in the recommended range, 33% represented poor dietary control, 22% were classified as intermediate. Physical growth was not significantly different from the Hungarian average. Mean verbal as well as nonverbal IQs were in the middle of the normal range. For an extended sample of 131 patients not followed longitudinally, mean recent IQ was 99.6 (SD = 16.3). Data concerning educational career were available for 107 patients. Normal schools were attended by 88 patients, 19 were in need of special elementary education. From 40 patients who had already finished elementary school, 17 underwent secondary school education, 1 is a university student, 15 are skilled workers, 4 were semi-skilled, and 4 are unemployed for reasons unrelated to their intellectual status.

Importância do diagnóstico e tratamento da fenilcetonúria

“…35 www 63 Na Hungria, país com 10 milhões de habitantes, no qual existem dois centros para PKU, foram registrados pelo Centro de proteção à PKU" em Budapeste, durante o período de 1975 a 1994, 160 casos de PKU clássica, o que corresponde a uma incidência de 1:9.000, entre um total de 1,5 milhões de recém-nascidos. 67 Cabalska et al 15 (1996) 34 No Brasil, Schmidt et al 65 (1987) estimam que na cidade de São Paulo 1:12.000 a 1:15.000 recém-nascidos são portadores de PKU, com base em levantamento realizado em postos de saúde e berçários. Já na região sul do país, Jardim et al 40 (1996) reportam que a razão é de 1:12.500, não sendo registrados os casos de HPA.…”

Long-Term Renal Function in Adult Patients with Phenylketonuria

“…With the introduction of newborn screening, diagnosis of PKU can be made within the first week after birth, long before the irreversible neuropsychological symptoms can develop. In Hungary, nationwide newborn screening (NBS) for PKU was introduced in 1975 [13]. As a consequence of the early introduction of NBS, a first generation of early treated PKU (ETPKU) patients have reached adulthood, without the development of irreversible symptoms seen in untreated PKU.…”

Habilidades do comportamento comunicativo de crianças com fenilcetonúria tratadas desde o período neonatal

“…Números oficiais brasileiros apontam que a incidência é de, aproximadamente, 1:12000 crianças. (TADA et al, 1984;O'NEILL et al, 1994;GULDBERG et al, 1995;SCHULER et al, 1996;OUNAP et al, 1998;LUGOVSKA et al, 1999;KAUFMAN, 2000;BRASIL, 2002;PANGKANON et al, 2003).…”