MCID: CLS049
MIFTS: 33

Classic Phenylketonuria

Categories: Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Classic Phenylketonuria

MalaCards integrated aliases for Classic Phenylketonuria:

Name: Classic Phenylketonuria 59
Phenylketonuria Classical 55
Classical Phenylketonuria 72
Classic Pku 59

Characteristics:

Orphanet epidemiological data:

59
classic phenylketonuria
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:



External Ids:

ICD10 via Orphanet 34 E70.0
UMLS via Orphanet 73 C0751434
Orphanet 59 ORPHA79254
UMLS 72 C0751434

Summaries for Classic Phenylketonuria

MalaCards based summary : Classic Phenylketonuria, also known as phenylketonuria classical, is related to phenylketonuria and hyperphenylalaninemia, bh4-deficient, a, and has symptoms including dry skin An important gene associated with Classic Phenylketonuria is PAH (Phenylalanine Hydroxylase), and among its related pathways/superpathways are Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism and Folate biosynthesis. The drugs lysine and phenylalanine have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and brain, and related phenotypes are global developmental delay and intellectual disability, severe

Related Diseases for Classic Phenylketonuria

Graphical network of the top 20 diseases related to Classic Phenylketonuria:



Diseases related to Classic Phenylketonuria

Symptoms & Phenotypes for Classic Phenylketonuria

Human phenotypes related to Classic Phenylketonuria:

59 32 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
2 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
3 growth delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001510
4 hypopigmentation of hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0005599
5 hypopigmentation of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0001010
6 hyperphenylalaninemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004923
7 depressivity 59 32 frequent (33%) Frequent (79-30%) HP:0000716
8 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
9 tremor 59 32 frequent (33%) Frequent (79-30%) HP:0001337
10 nausea and vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002017
11 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
12 hypertonia 59 32 frequent (33%) Frequent (79-30%) HP:0001276
13 memory impairment 59 32 frequent (33%) Frequent (79-30%) HP:0002354
14 autism 59 32 frequent (33%) Frequent (79-30%) HP:0000717
15 attention deficit hyperactivity disorder 59 32 frequent (33%) Frequent (79-30%) HP:0007018
16 eczema 59 32 frequent (33%) Frequent (79-30%) HP:0000964
17 hyperreflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001347
18 cerebral calcification 59 32 occasional (7.5%) Occasional (29-5%) HP:0002514
19 self-injurious behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0100716
20 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
21 lack of skin elasticity 59 32 occasional (7.5%) Occasional (29-5%) HP:0100679
22 motor deterioration 59 32 occasional (7.5%) Occasional (29-5%) HP:0002333
23 hemiplegia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002301
24 paraplegia 59 32 occasional (7.5%) Occasional (29-5%) HP:0010550
25 behavioral abnormality 59 Very frequent (99-80%)
26 mental deterioration 59 Frequent (79-30%)

UMLS symptoms related to Classic Phenylketonuria:


dry skin

MGI Mouse Phenotypes related to Classic Phenylketonuria:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.62 PAH PTS

Drugs & Therapeutics for Classic Phenylketonuria

Drugs for Classic Phenylketonuria (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 lysine
2 phenylalanine

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Nutrition Status of Adult and Adolescent Patients With Classical Phenylketonuria (PKU) and Hyperphenylalaninemia Completed NCT01879995
2 Biological Variation of Phenylalanine in Patients With Hyperphenylalaninemia Completed NCT01869972
3 The Effects of an Acute Bout of Moderate Intensity Exercise on Plasma Amino Acids in Subjects With Phenylketonuria Terminated NCT01904708
4 The Effects of Sapropterin Dihydrochloride Supplementation on in Vivo Redox Status in Patients With Classical Phenylketonuria Withdrawn NCT01650909

Search NIH Clinical Center for Classic Phenylketonuria

Genetic Tests for Classic Phenylketonuria

Anatomical Context for Classic Phenylketonuria

MalaCards organs/tissues related to Classic Phenylketonuria:

41
Skin, Testes, Brain, Liver, Bone

Publications for Classic Phenylketonuria

Articles related to Classic Phenylketonuria:

(show top 50) (show all 104)
# Title Authors PMID Year
1
[DNA analysis in classic phenylketonuria--screening for mutations and haplotype analysis in Slovak families]. 9 38
7812811 1994
2
Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China. 38
30459323 2018
3
Melanoma cases demonstrate increased carrier frequency of phenylketonuria/hyperphenylalanemia mutations. 38
29473999 2018
4
"Mild" hyperphenylalaninemia? A case series of seven treated patients following newborn screening. 38
29102225 2017
5
A Novel Variant in the PAH Gene Causing Phenylketonuria in an Iranian Pedigree. 38
28706611 2017
6
Incidence of Neonatal Hyperphenylalaninemia Based on High-performance Liquid Chromatography Confirmatory Technique in Mazandaran Province, Northern Iran (2007-2015). 38
29184644 2017
7
Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity. 38
27682710 2016
8
Unusual Case of Phenylketonuria With Atypical Brain Magnetic Resonance Imaging Findings. 38
22965559 2013
9
The proportion of tetrahydrobiopterin deficiency and PAH gene deficiency variants among cases with hyperphenyalaninemia in Western Iran. 38
24497712 2013
10
Tetralogy of Fallot variant with pulmonary atresia (pseudotruncus arteriosus) in a case of maternal PKU syndrome. 38
22992535 2012
11
Blood phenylalanine clearance and BH(4)-responsiveness in classic phenylketonuria. 38
21592835 2011
12
Phenylalanine hydroxylase deficiency. 38
21555948 2011
13
A long-term study of bone mineral density in patients with phenylketonuria under diet therapy. 38
22295034 2011
14
Performance of children with phenylketonuria in the Developmental Screening Test--Denver II. 38
21103729 2010
15
A case of maternal PKU syndrome despite intensive patient counseling. 38
19898791 2009
16
Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy. 38
19292873 2009
17
The activity of wild type and mutant phenylalanine hydroxylase with respect to the C-oxidation of phenylalanine and the S-oxidation of S-carboxymethyl-L-cysteine. 9
19036622 2009
18
Effects of phenylalanine and its metabolites on cytoplasmic free calcium in cortical neurons. 38
17401656 2007
19
[Study on tetrahydrobiopterin deficiency in Northern Chinese population]. 9
16767663 2006
20
Phenylalanine reduces synaptic density in mixed cortical cultures from mice. 9
16549526 2006
21
Cerebral glucose metabolism in adults with early treated classic phenylketonuria. 38
16343970 2006
22
The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency. 38
16601866 2006
23
Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria. 38
16051511 2005
24
Increased plasma adiponectin concentrations in poorly controlled patients with phenylketonuria normalize with a strict diet: evidence for catecholamine-mediated adiponectin regulation and a complex effect of phenylketonuria diet on atherogenesis risk factors. 38
16154435 2005
25
[Tetrahydrobiopterin loading test in differential diagnosis among hyperphenylalaninemia patients]. 38
16086286 2005
26
Cognitive functions in classic phenylketonuria and mild hyperphenylalaninaemia: experience in a paediatric population. 38
15991863 2005
27
[Screening and diagnosis of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency with tetrahydrobiopterin loading test]. 38
15924746 2005
28
[Identification of novel mutations in the phenylalanine hydroxylase gene of classical phenylketonuria]. 9
15793771 2005
29
Adult phenylketonuria. 38
15465508 2004
30
A preliminary report on dopamine system reactivity in PKU: acute effects of haloperidol on neuropsychological, physiological, and neuroendocrine functions. 38
15024549 2004
31
Attitudes and psychosocial adjustment of unaffected siblings of patients with phenylketonuria. 38
15057980 2004
32
Discordant PKU phenotype in one family due to disparate genotypes and a novel mutation. 9
15159646 2004
33
Hyperphenylalaninemia in a premature infant with heterozygosity for phenylketonuria. 38
15346830 2004
34
Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. 38
12501224 2002
35
Hyperphenylalaninemia and birth weight. 38
12381438 2002
36
Phenylketonuria presenting in adulthood as progressive spastic paraparesis with dementia. 38
11723206 2001
37
Individual blood-brain barrier phenylalanine transport determines clinical outcome in phenylketonuria. 38
11601498 2001
38
Dental disease indices and caries related oral microflora in children with phenylketonuria. 38
11862879 2001
39
A phenylalanine hydroxylase amino acid polymorphism with implications for molecular diagnostics. 9
11461196 2001
40
Should newborn mutation scanning for hyperphenylalaninaemia and galactosaemia be implemented? A Polish experience. 38
11678552 2001
41
Large de novo deletion in chromosome 12 affecting the PAH, IGF1, ASCL1, and TRA1 genes. 9
11434725 2001
42
Lobar holoprosencephaly in an infant born to a mother with classic phenylketonuria. 38
11078575 2000
43
Wechsler subscale IQ and subtest profile in early treated phenylketonuria. 38
10685922 2000
44
[Importance of the diagnoses and treatment of phenylketonuria]. 38
10769367 2000
45
Nutrient intake and growth of infants with phenylketonuria undergoing therapy. 38
9740198 1998
46
Dietary treatment of destructive behavior associated with hyperphenylalaninemia. 38
9579281 1998
47
Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations. 9
9391881 1997
48
Expression of human phenylalanine hydroxylase activity in T lymphocytes of classical phenylketonuria children by retroviral-mediated gene transfer. 9
9427141 1997
49
Mutations identified in exon 7 of phenylalanine hydroxylase gene in Chinese. 38
11360625 1997
50
[Novel mutations identified in exon 7 of phenylalanine hydroxylase gene in Chinese]. 38
9575658 1997

Variations for Classic Phenylketonuria

Expression for Classic Phenylketonuria

Search GEO for disease gene expression data for Classic Phenylketonuria.

Pathways for Classic Phenylketonuria

GO Terms for Classic Phenylketonuria

Biological processes related to Classic Phenylketonuria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular amino acid metabolic process GO:0006520 9.16 QDPR PTS
2 L-phenylalanine catabolic process GO:0006559 8.96 QDPR PAH
3 tetrahydrobiopterin biosynthetic process GO:0006729 8.62 QDPR PTS

Sources for Classic Phenylketonuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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