Phenylketonuria natural history, complications and prognosis
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Natural History
If a child is not screened at birth (e.g. in home deliveries), the disease may present clinically with seizures, albinism (excessively fair hair and skin), and a "musty odor" to the baby's sweat and urine (due to phenylacetate, one of the ketones produced).
Untreated children are normal at birth, but fail to attain early developmental milestones, develop microcephaly, and demonstrate progressive impairment of cerebral function. Hyperactivity, EEG abnormalities and seizures, and severe mental retardation are major clinical problems later in life. A "musty" odor of skin, hair, sweat and urine (due to phenylacetate accumulation); and a tendency to hypopigmentation and eczema are also observed.
In contrast, affected children who are detected and treated at birth are less likely to develop neurological problems and have seizures and mental retardation, though such clinical disorders are still possible.
Complications
Complications are seen both in treated and untreated patients, but are more frequently seen in the second group, and in the patients that are lately diagnosed.
Neurocognitive aspects such as IQ, processing speed, attention, inhibition, and motor control can be affected, PKU is also associated with low self-esteem,lower achievement motivation, decreased autonomy, decreased social competence, and possible increased risk for depressed mood, generalized anxiety and social isolation.[1]
Prognosis
Well controlled and early diagnosed PKU has a great prognosis, but it requires a life long dietary restriction and ingestion of amino acid supplement.[2]
On the other hand, when patients with PKU do not receive treatment, the prognosis is poor, and it greatly affects the neurologic system and intellectual capacity.[3]
References
- ↑ Regnault A, Burlina A, Cunningham A, Bettiol E, Moreau-Stucker F, Benmedjahed K; et al. (2015). "Development and psychometric validation of measures to assess the impact of phenylketonuria and its dietary treatment on patients' and parents' quality of life: the phenylketonuria - quality of life (PKU-QOL) questionnaires". Orphanet J Rare Dis. 10 (1): 59. doi:10.1186/s13023-015-0261-6. PMID 25958326.
- ↑ Macleod EL, Ney DM (2010). "Nutritional Management of Phenylketonuria". Ann Nestle Eng. 68 (2): 58–69. doi:10.1159/000312813. PMC 2901905. PMID 22475869.
- ↑ Bosch AM, Burlina A, Cunningham A, Bettiol E, Moreau-Stucker F, Benmedjahed K; et al. (2015). "Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries". Orphanet J Rare Dis. 10 (1): 80. doi:10.1186/s13023-015-0294-x. PMID 26084935.