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

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Classic Phenylketonuria Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®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 %

We have 62 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SORSBY FUNDUS DYSTROPHY; SFD PEELING SKIN SYNDROME 1; PSS1 PFEIFFER SYNDROME TYPE 2 ATRIOVENTRICULAR SEPTAL DEFECT 5; AVSD5 METHYLMALONIC ACIDURIA, cblA TYPE

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more