Adults with untreated phenylketonuria: out of sight, out of mind

Abstract

Some people with phenylketonuria who were born before screening began were never treated and are still alive. Here we report that far fewer people with untreated phenylketonuria were detected than are thought to exist (about 2000). The majority of those traced had high support needs, challenging behaviour and other symptoms of phenylketonuria. No significant differences were found between those who had or had not tried the phenylalanine-restricted diet. A randomised controlled trial is required to examine the effect of trying the low-phenylalanine diet for people with untreated phenylketonuria.

People with intellectual disability: What do we know about adulthood and life expectancy?

“…The average age of the survivors was 55.7 years. Murphy et al [] found in a survey in the UK, 79 adults with untreated phenylketonuria (i.e., 50 never on diet and 29 tried the diet for a short time). The mean age of the group was 47.7 years (range 19–72).There were no significant differences in the level of disabilities and challenging behavior between those who had tried the diet and those who had never tried it.…”

Deficiency of aminopeptidase P1 causes behavioral hyperactivity, cognitive deficits, and hippocampal neurodegeneration

“…Similarly, the majority, but not all, of patients with untreated phenylketonuria have an intellectual disability, but epilepsy is observed in 28% of the patients (Murphy et al . ). There is a possibility that the distinct absolute activity of the defective enzyme produces different phenotypes in patients with metabolic disease.…”

Adults with late diagnosed PKU and severe challenging behaviour: a randomised placebo-controlled trial of a phenylalanine-restricted diet

“…Individuals with late diagnosed PKU were recruited following a UK-wide survey identifying 98 affected people 14. From this group and a further 35 individuals subsequently identified, 36 met the inclusion criteria: late diagnosed PKU confirmed by biochemical analysis; severe intellectual disabilities; challenging behaviour; and carers prepared to participate.…”

“…Recently, we performed a nationwide survey to identify adults with PKU, born before newborn screening, with intellectual disabilities and challenging behaviour 14. Here we report the results of a randomised placebo-controlled double blind trial of phenylalanine-restricted diet in this late diagnosed group with challenging behaviour, the first such trial of diet in PKU.…”