MCID: MLD010
MIFTS: 24

Mild Phenylketonuria

Categories: Rare diseases, Neuronal diseases, Metabolic diseases

Aliases & Classifications for Mild Phenylketonuria

MalaCards integrated aliases for Mild Phenylketonuria:

Name: Mild Phenylketonuria 53 59
Variant Phenylketonuria 53 59
Phenylketonurias 55 73
Variant Pku 53 59
Mild Pku 53 59
Mpku 53 59

Characteristics:

Orphanet epidemiological data:

59
mild phenylketonuria
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA79253
ICD10 via Orphanet 34 E70.1

Summaries for Mild Phenylketonuria

NIH Rare Diseases : 53 Mild phenylketonuria is a rare form of phenylketouria (PKU variant), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity. Patients with blood phenylalanine concentrations of 600-1,200 micromol/L are considered to have mild PKU. Clinical signs include reduced cognitive function and behavioral and developmental disorders. It is caused by certain mutations in the PAH gene which result in slightly higher activity of the phenylalanine hydroxylase compared with the classic phenylketonuria where there is a complete or near-complete deficiency of phenylalanine hydroxylase activity. Inheritance is autosomal recessive. Treatment is with a diet low in phenylalanine (patients can have up to 400-600 mg/day of phenylalanine).

MalaCards based summary : Mild Phenylketonuria, also known as variant phenylketonuria, is related to phenylketonuria and maternal hyperphenylalaninemia, and has symptoms including back pain, headache and pain. An important gene associated with Mild Phenylketonuria is PAH (Phenylalanine Hydroxylase). The drugs Verapamil and calcium channel blockers have been mentioned in the context of this disorder. Affiliated tissues include testes.

Related Diseases for Mild Phenylketonuria

Diseases related to Mild Phenylketonuria via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 phenylketonuria 11.5
2 maternal hyperphenylalaninemia 10.9
3 aging 9.7
4 classic phenylketonuria 9.7

Symptoms & Phenotypes for Mild Phenylketonuria

UMLS symptoms related to Mild Phenylketonuria:


back pain, headache, pain, sciatica, seizures, syncope, tremor, chronic pain, vertigo/dizziness, sleeplessness

Drugs & Therapeutics for Mild Phenylketonuria

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

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Verapamil Approved Phase 4 52-53-9 2520
2 calcium channel blockers Phase 4
3 Anti-Arrhythmia Agents Phase 4
4 Vasodilator Agents Phase 4
5 Pharmaceutical Solutions Phase 4
6 Calcium, Dietary Phase 4
7 phenylalanine Nutraceutical Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Response to Kuvan® in Subjects With Phenylketonuria (PKU) in a 4 Weeks Testing Period Completed NCT01082328 Phase 4 Kuvan®
2 Study of BH4, a New and Simple Treatment of Mild PKU Completed NCT00260000 Phase 2 5,6,7,8-tetrahydrobiopterin
3 Behavioral Effects of Kuvan in Children With Mild Phenylketonuria Terminated NCT00827762 Kuvan

Search NIH Clinical Center for Mild Phenylketonuria

Genetic Tests for Mild Phenylketonuria

Anatomical Context for Mild Phenylketonuria

MalaCards organs/tissues related to Mild Phenylketonuria:

41
Testes

Publications for Mild Phenylketonuria

Articles related to Mild Phenylketonuria:

(show all 13)
# Title Authors Year
1
Extended Experience of Lower Dose Sapropterin in Irish Adults with Mild Phenylketonuria. ( 29030855 )
2017
2
Efficacy and safety of BH4 before the age of 4 years in patients with mild phenylketonuria. ( 22388642 )
2012
3
Diagnosis of tetrahydrobiopterin (BH4) responsive mild phenylketonuria in Japan over the past 10 years. ( 19904458 )
2008
4
Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations. ( 15459954 )
2004
5
Tetrahydrobiopterin and mild phenylketonuria. ( 12715773 )
2003
6
Tetrahydrobiopterin and mild phenylketonuria. ( 12715774 )
2003
7
Tetrahydrobiopterin and mild phenylketonuria. ( 12711753 )
2003
8
Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. ( 12501224 )
2002
9
Tetrahydrobiopterin and dietary restriction in mild phenylketonuria. ( 12501220 )
2002
10
Treatable neurotransmitter deficiency in mild phenylketonuria. ( 11552030 )
2001
11
Two novel mutations in exon 11 of the PAH gene (1163/1164 del TG and P362T) associated with classic phenylketonuria and mild phenylketonuria. ( 10200057 )
1998
12
Classical and mild phenylketonuria in a family. ( 5565469 )
1971
13
A third allele at the phenylalanine-hydroxylase locus in mild phenylketonuria (hyperphenylalaninaemia). ( 4169602 )
1968

Variations for Mild Phenylketonuria

Expression for Mild Phenylketonuria

Search GEO for disease gene expression data for Mild Phenylketonuria.

Pathways for Mild Phenylketonuria

GO Terms for Mild Phenylketonuria

Sources for Mild Phenylketonuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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