Classic Phenylketonuria
Description
Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.
Clinical Features
Top most frequent phenotypes and symptoms related to Classic Phenylketonuria
- Seizures
- Global developmental delay
- Microcephaly
- Growth delay
- Cataract
- Hyperreflexia
- Tremor
- Intellectual disability, severe
- Hypertonia
- Behavioral abnormality
And another 16 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Classic Phenylketonuria Is also known as classic pku.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Classic Phenylketonuria Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
MitoMet®Plus aCGH Analysis.
By Baylor Miraca Genetics Laboratories (United States).
RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)
View the complete list with 612 more genes
Specificity
1 %
Genes
100 % |
PAH Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
PAH
Specificity
100 %
Genes
100 % |
PAH Comprehensive - Sequence & Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
PAH
Specificity
100 %
Genes
100 % |
PAH Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
PAH
Specificity
100 %
Genes
100 % |
PAH Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
PAH
Specificity
100 %
Genes
100 % |
GeneAware Complete Panel Version 2 (Female).
By Baylor Miraca Genetics Laboratories (United States).
RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)
View the complete list with 139 more genes
Specificity
1 %
Genes
100 % |
GeneAware Complete Panel Version 2 (Male).
By Baylor Miraca Genetics Laboratories (United States).
RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)
View the complete list with 129 more genes
Specificity
1 %
Genes
100 % |
Phenylketonuria.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
PAH
Specificity
100 %
Genes
100 % |
You can get up to 62 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
ORPHANET Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like YOU-HOOVER-FONG SYNDROME; YHFS IMMUNODEFICIENCY 51; IMD51 DOWLING-DEGOS DISEASE 2; DDD2 AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED; APLAID PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY; PNPOD