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.

Click here to know more about Mendelian.

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 more

Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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