Males and females are affected equally. The disease was discovered in 1934 by Ivar Asbjørn Følling, with the importance of diet determined in 1935. Gene therapy, while promising, requires a great deal more study as of 2014. Signs and symptoms
Untreated PKU can lead to intellectual disability, seizures, behavioral problems, and mental disorders. It may also result in a musty smell and lighter skin. A baby born to a mother who has poorly treated PKU may have heart problems, a small head, and low birth weight.Because the mothers body is able to break down phenylalanine during pregnancy, infants with PKU are normal at birth. The disease is not detectable by physical examination at that time, because no damage has yet been done. Newborn screening is performed to detect the disease and initiate treatment before any damage is done. The blood sample is usually taken by a heel prick, typically performed 2–7 days after birth. This test can reveal elevated phenylalanine levels after one or two days of normal infant feeding.If a child is not diagnosed during the routine newborn screening test and a phenylalanine-restricted diet is not introduced, then phenylalanine levels in the blood will increase over time. Toxic levels of phenylalanine (and insufficient levels of tyrosine) can interfere with infant development in ways that have permanent effects. The disease may present clinically with seizures,  hypopigmentation (excessively fair hair and skin), and a "musty odor" to the babys sweat and urine (due to phenylacetate, a carboxylic acid produced by the oxidation of phenylacetone).
Revesz syndrome is a fatal disease that causes exudative retinopathy and bone marrow failure. Other symptoms include severe aplastic anemia, intrauterine growth retardation, fine sparse hair, fine reticulate skin pigmentation, ataxia due to cerebellar hypoplasia, and cerebral calcifications. Its effects are similar to that of Hoyeraal-Hreidarsson syndrome. It is a variant of dyskeratosis congenita. Cause
Revesz syndrome is a genetic disease  thought to be caused by short telomeres. Patients with Revesz syndrome have presented with heterozygous mutations in TINF2 gene which is located on chromosome 14q12. There is no treatment for this disease yet. Diagnosis
Epidemiology
Revesz syndrome has so far been observed only in children. There is not much information about the disease because of its low frequency in general population and under reporting of cases. History
The syndrome is named after the author of the original case published in 1992. The patient was a 6-month-old male from Sudan. At 7 months, the patient developed aplastic anemia, and subsequently died at 19 months. A second case was reported in 1994 in a young girl in Hungary. She had many of the same symptoms as the child in Sudan. A third case, reported in Calicut, India,  was that of a 5-year-old girl who also had additional features of retinal detachment and retinitis pigmentosa, which are unreported in this syndrome. See also
List of cutaneous conditions

Footnotes
References
Online Mendelian Inheritance in Man (OMIM): 300240
Revesz T, Fletcher S, al-Gazali LI, DeBuse P (September 1992). "Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome?". J. Med. Genet. 29 (9): 673–5.