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
  • Intellectual disability, severe
  • Tremor
  • Hypertonia
  • Behavioral abnormality
And another 16 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Classic Phenylketonuria Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
PAH Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

PAH
Specificity
100 %
Genes
100 %
PAH Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

PAH
Specificity
100 %
Genes
100 %
PAH Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

PAH
Specificity
100 %
Genes
100 %
PAH Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

PAH
Specificity
100 %
Genes
100 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

FMR1, UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2, GNPTAB , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
Phenylketonuria.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

PAH
Specificity
100 %
Genes
100 %
Phenylketonuria.

By Center for Human Genetics, Inc in United States.

PAH
Specificity
100 %
Genes
100 %
PAH sequencing.

By University of Minnesota Physicians Outreach Laboratory University of Minnesota in United States.

PAH
Specificity
100 %
Genes
100 %
Phenylalanine Hydroxylase Deficiency.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet in Denmark.

PAH
Specificity
100 %
Genes
100 %
PAH Gene Sequencing.

By GeneDx in United States.

PAH
Specificity
100 %
Genes
100 %
PAH. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

PAH
Specificity
100 %
Genes
100 %
Phenylalanine Hydroxylase Deficiency (sequence analysis of PAH gene).

By CGC Genetics in Portugal.

PAH
Specificity
100 %
Genes
100 %
Phenylketonuria (deletion/duplication analysis of PAH gene).

By CGC Genetics in Portugal.

PAH
Specificity
100 %
Genes
100 %
Phenylketonuria (deletion/duplication analysis of PAH gene).

By CGC Genetics in Portugal.

PAH
Specificity
100 %
Genes
100 %
Phenylalanine Hydroxylase Deficiency via the PAH Gene.

By PreventionGenetics PreventionGenetics in United States.

PAH
Specificity
100 %
Genes
100 %
Hyperphenylalaninemia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PTS, QDPR, PAH, GCH1, PCBD1
Specificity
20 %
Genes
100 %
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PC, TYROBP, ATP7A, ATP7B, TWNK, ADSL, HSD17B4, CPS1, PSAP, GLB1, OCRL, POLG, NDUFS4, HSPD1, SLC25A4, RRM2B, FH, COQ9, DNM1L, DGUOK , (...)

View the complete list with 134 more genes
Specificity
1 %
Genes
100 %
Phenylketonuria.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany.

PAH
Specificity
100 %
Genes
100 %
Phenylketonuria/ Hyperphenylalaninemia, non-PKU mild (PAH).

By VU University Medical Center Metabolic Unit, PX 1X 009 in Netherlands.

PAH
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
Phenylketonuria.

By Centogene AG - the Rare Disease Company in Germany.

PAH
Specificity
100 %
Genes
100 %
Phenylketonuria.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

PAH
Specificity
100 %
Genes
100 %
Single gene testing PAH.

By CeGaT GmbH in Germany.

PAH
Specificity
100 %
Genes
100 %
Phenylketonuria.

By Laboratory of Human Genetics GENOMED Health Care Center in Poland.

PAH
Specificity
100 %
Genes
100 %
Phenylalanine Hydroxylase Deficiency.

By Clinical Genomics Maastricht University Medical Centre in Netherlands.

PAH
Specificity
100 %
Genes
100 %
PAH.

By Division Human Genetics Medical University Innsbruck in Austria.

PAH
Specificity
100 %
Genes
100 %
Family Prep Screen.

By Counsyl in United States.

F2, F5, FMR1, HFE, MTHFR, ACADM, ACADS, AGL, ACADVL, ALDOB, ALPL, BTD, ATP7B, BCKDHB, BCS1L, GAA, HBB, CHM, SLC37A4, HSD17B4 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
100 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...)

View the complete list with 280 more genes
Specificity
1 %
Genes
100 %
Invitae Elevated Phenylalanine Panel.

By Invitae in United States.

SPR, PTS, QDPR, PAH, GCH1, PCBD1
Specificity
17 %
Genes
100 %
Invitae Metabolic Disorders Newborn Screening Confirmation Panel.

By Invitae in United States.

MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, PC, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, MMACHC, MTR, MTRR, CPS1, CPT2, PRODH , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Invitae Hyperphenylalaninemia Panel.

By Invitae in United States.

SPR, PTS, QDPR, PAH, GCH1, PCBD1
Specificity
17 %
Genes
100 %
Invitae Treatable Neurometabolic Disorders Panel.

By Invitae in United States.

MTHFR, MCCC1, MCCC2, ACAT1, ARG1, HLCS, ATP7A, BTD, ATP7B, AUH, BCKDHA, BCKDHB, MMACHC, AMN, MTR, MTRR, CPS1, HSD17B10, DLD, SLC25A13 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
100 %
Phenylketonuria: PAH gene sequence analysis (exons 7-8, 11-12).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

PAH
Specificity
100 %
Genes
100 %
Phenylketonuria: PAH gene sequence analysis (remaining exons).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

PAH
Specificity
100 %
Genes
100 %
Phenylketonuria: PAH gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

PAH
Specificity
100 %
Genes
100 %
Phenylketonuria (PKU): Phenylalanine Hydroxylase (PAH) Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PAH
Specificity
100 %
Genes
100 %
Phenylketonuria (PKU): Phenylalanine Hydroxylase (PAH) Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PAH
Specificity
100 %
Genes
100 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, CHM, TYR, SLC37A4 , (...)

View the complete list with 127 more genes
Specificity
1 %
Genes
100 %
Phenylketonuria (PKU): Phenylalanine Hydroxylase (PAH) Full Gene Sequencing.

By DLE - Diagnosticos Laboratoriais Especializados in Brazil.

PAH
Specificity
100 %
Genes
100 %
Phenylalanine Hydroxylase Deficiency, includes Phenylketonuria (PAH).

By Integrated Genetics Westborough Integrated Genetics in United States.

PAH
Specificity
100 %
Genes
100 %
Inheritest NGS, Comprehensive.

By Integrated Genetics Westborough Integrated Genetics in United States.

FMR1, ACADM, AGL, ACADVL, ACAT1, ALDOB, ALPL, HLCS, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPS1, CPT2, GNPTAB , (...)

View the complete list with 120 more genes
Specificity
1 %
Genes
100 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
100 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
100 %
PAH.

By Fulgent Genetics Fulgent Genetics in United States.

PAH
Specificity
100 %
Genes
100 %
Phenylketonuria (PKU) Mutation Analysis.

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

PAH
Specificity
100 %
Genes
100 %
PHENYLKETON.

By PentaCoreLab in Hungary.

PAH
Specificity
100 %
Genes
100 %
Phenylketonuria (PKU).

By Pro Genetic Laboratory/ (DBA) University Childrens' Genetics Laboratory in United States.

PAH
Specificity
100 %
Genes
100 %
Spastic Paraplegia Panel.

By Blueprint Genetics in Finland.

ARG1, BTD, C12orf65, HSPD1, AFG3L2, SPR, REEP1, SPG7, ABCD1, PAH, GALC, SLC25A15, L2HGDH, GBE1, FXN, CYP27A1, FARS2, GJC2, PLP1, SACS , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
100 %
Hyperphenylalaninemia Panel.

By Blueprint Genetics in Finland.

PTS, QDPR, PAH, GCH1, PCBD1
Specificity
20 %
Genes
100 %
Phenylketonuria.

By Bioarray in Spain.

PAH
Specificity
100 %
Genes
100 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
100 %
Baby Genes Targeted Panel.

By Baby Genes Inc. Baby Genes Inc. in United States.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, DLD, SLC25A13 , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
PAH Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

PAH
Specificity
100 %
Genes
100 %
Phenylketonuria (PAH) Targeted Testing.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

PAH
Specificity
100 %
Genes
100 %
PHENYLKETONURIA.

By Laboratorio de Genetica Clinica SL in Spain.

PAH
Specificity
100 %
Genes
100 %
Classical Phenylketonuria , Sequencing PAH Gene.

By Reference Laboratory Genetics in Spain.

PAH
Specificity
100 %
Genes
100 %
Classical Phenylketonuria , Sequencing Rest Exons PAH Gene.

By Reference Laboratory Genetics in Spain.

PAH
Specificity
100 %
Genes
100 %
Classical Phenylketonuria , Sequencing Exons (7,8,11,12) PAH Gene.

By Reference Laboratory Genetics in Spain.

PAH
Specificity
100 %
Genes
100 %
Classical Phenylketonuria , Deletions-Duplications (MLPA) PAH Gene.

By Reference Laboratory Genetics in Spain.

PAH
Specificity
100 %
Genes
100 %
planTrue Extended.

By True Health Diagnostics in United States.

FMR1, ACADM, AGL, ACADVL, ALDOB, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, GAA, HBB, GNPTAB, GLB1, NPHP1, CLRN1, PCDH15, DLD, SMPD1 , (...)

View the complete list with 61 more genes
Specificity
2 %
Genes
100 %
CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, HSD17B10 , (...)

View the complete list with 79 more genes
Specificity
2 %
Genes
100 %
CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, HSD17B10 , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
100 %
Phenylketonuria: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

PAH
Specificity
100 %
Genes
100 %
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, TYR, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
100 %
Non-PKU hyperphenylalanemia: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

PAH
Specificity
100 %
Genes
100 %
Phenylketonuria.

By Genomic Laboratory Semmelweis University in Hungary.

PAH
Specificity
100 %
Genes
100 %

Alternate names

Classic Phenylketonuria Is also known as classic pku.



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