Phenylketonuria
| Disorder | |
|---|---|
| OMIM #: | #261600 (Click to access OMIM database) |
| Disorder: | Phenylketonuria |
| Also known as: | PKU, PHENYLALANINE HYDROXYLASE DEFICIENCY, PAH DEFICIENCY, OLIGOPHRENIA PHENYLPYRUVICA, FOLLING DISEASE, PHENYLALANINE HYDROXYLASE, INCLUDED PAH, INCLUDED, PKU1, INCLUDED, HYPERPHENYLALANINEMIA, MILD, INCLUDED HPA, INCLUDED, PHENYLALANINEMIA, INCLUDED |
| Clinical | |
| Phenotype: | deficiency of phenylalanine hydroxylase, high levels of plasma phenylalanine, developmental delay, vomiting, eczema, seizures, behavioural problems, urine smells "musky", hypopigmentation |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | PAH |
| Base Change: | c.168+5G>C |
| Amino Acid Change: | splicing defect |
| 2 Amish, Old Order Mennonite | |
| Gene: | PAH |
| Base Change: | G>A, at nucleotide 782 |
| Amino Acid Change: | arg 261 --> gln |
| 3 Amish | |
| Gene: | PAH |
| Base Change: | c.284_286delTCA |
| Amino Acid Change: | p.Ile95del |
| 4 Amish, Old Order Mennonite | |
| Gene: | PAH |
| Base Change: | c.1315+1G>A |
| Amino Acid Change: | splicing defect |
| 5 Amish | |
| Gene: | PAH |
| Base Change: | c.1066-11G>A |
| Amino Acid Change: | splicing defect |
| Last updated: | 2022-11-14 |
| References |
|---|
| Abadie V, Lyonnet S, Maurin N, Berthelon M, Caillaud C, Giraud F, Mattei J.-F, Rey J, Rey F, and Munnich A. (1989) CpG dinucleotides are mutation hot spots in phenylketonuria. Genomics 5: 936-939. PubMed ID: 2574153 |
| Caillaud C, Lyonnet S, Rey F, Melle D, Frebourg T, Berthelon M, Vilarinho L, Vaz Osorio R, Rey J, and Munnich A. (1991) A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuria. J Biol Chem 266(15): 9351-9354. PubMed ID: 1709636 |
| Dworniczak B, Aulehla-Scholz C, Kalaydjieva L, Bartholome K, Grudda K, and Horst J. (1991) Aberrant splicing of phenylalanine hydroxylase mRNA: the major cause for phenylketonuria in parts of southern Europe. Genomics 11: 242-246. PubMed ID: 1769645 |
| Schwoerer JS, Drilias N, Kuhl A, Mochal S, Baker M. (2018) Genotypes of patients with phenylalanine hydroxylase deficiency in the Wisconsin Amish. Mol Genet Metab Rep Mar 8;15:75-77. PubMed ID: 29560316 |
| Strauss KA, Puffenberger EG. (2009) Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet 10:513-36. PubMed ID: 19630565 |
| Wang H, Nye L, Puffenberger E, Morton H. (2007) Phenylalanine hydroxylase deficiency exhibits mutation heterogeneity in two large old order Amish settlements. Am J Med Genet A 143A(16):1938-40. PubMed ID: 17630668 |
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