MCID: HYP171
MIFTS: 18

Hyperphenylalaninemia Due to Dehydratase Deficiency

Categories: Rare diseases

Aliases & Classifications for Hyperphenylalaninemia Due to Dehydratase Deficiency

MalaCards integrated aliases for Hyperphenylalaninemia Due to Dehydratase Deficiency:

Name: Hyperphenylalaninemia Due to Dehydratase Deficiency 54
Hyperphenylalaninemia with Primapterinuria 54 74
Tetrahydrobiopterin -Deficient Hyperphenylalaninemia Due to Pterin-4-Alpha-Carbinolamine Dehydratase Deficiency 54
Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due to Pterin-4-Alpha-Carbinolamine Dehydratase Deficiency 54
Hyperphenylalaninemia Due to Pterin-4-Alpha-Carbinolamine Dehydratase Deficiency 54
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency 54
Hyperphenylalaninemia, Bh4-Deficient, D 54
Dehydratase Deficiency 54
Cadh Deficiency 54
Pcbd Deficiency 54

Classifications:



External Ids:

UMLS 74 C1849700

Summaries for Hyperphenylalaninemia Due to Dehydratase Deficiency

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1578Disease definitionDehydratase deficiency or pterin-4 alpha-carbinolamine dehydratase (PCD) is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (see this term), characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. PCD is inherited in an autosomal recessive manner.Visit the Orphanet disease page for more resources.

MalaCards based summary : Hyperphenylalaninemia Due to Dehydratase Deficiency, also known as hyperphenylalaninemia with primapterinuria, is related to aminolevulinic acid dehydratase deficiency porphyria and aminolevulinate dehydratase deficiency porphyria. The drug Aminolevulinic acid has been mentioned in the context of this disorder. Affiliated tissues include bone, liver and testes.

Related Diseases for Hyperphenylalaninemia Due to Dehydratase Deficiency

Diseases related to Hyperphenylalaninemia Due to Dehydratase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 aminolevulinic acid dehydratase deficiency porphyria 12.5
2 aminolevulinate dehydratase deficiency porphyria 12.4
3 porphyria, acute hepatic 11.8
4 hyperphenylalaninemia, bh4-deficient, d 11.5
5 porphyria 10.5
6 acute porphyria 10.1
7 tyrosinemia 10.1
8 hyperphenylalaninemia 10.1
9 porphyria, acute intermittent 9.9
10 inappropriate adh syndrome 9.9
11 neuropathy 9.9

Graphical network of the top 20 diseases related to Hyperphenylalaninemia Due to Dehydratase Deficiency:



Diseases related to Hyperphenylalaninemia Due to Dehydratase Deficiency

Symptoms & Phenotypes for Hyperphenylalaninemia Due to Dehydratase Deficiency

Drugs & Therapeutics for Hyperphenylalaninemia Due to Dehydratase Deficiency

Drugs for Hyperphenylalaninemia Due to Dehydratase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aminolevulinic acid Approved 106-60-5 137

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Longitudinal Study of the Porphyrias Recruiting NCT01561157

Search NIH Clinical Center for Hyperphenylalaninemia Due to Dehydratase Deficiency

Genetic Tests for Hyperphenylalaninemia Due to Dehydratase Deficiency

Anatomical Context for Hyperphenylalaninemia Due to Dehydratase Deficiency

MalaCards organs/tissues related to Hyperphenylalaninemia Due to Dehydratase Deficiency:

42
Bone, Liver, Testes, Bone Marrow

Publications for Hyperphenylalaninemia Due to Dehydratase Deficiency

Articles related to Hyperphenylalaninemia Due to Dehydratase Deficiency:

(show all 19)
# Title Authors Year
1
The third case of Doss porphyria (delta-amino-levulinic acid dehydratase deficiency) in Germany. ( 15303011 )
2004
2
Survival of two patients with severe delta-aminolaevulinic acid dehydratase deficiency porphyria. ( 11286384 )
2001
3
Molecular analysis of delta-aminolevulinate dehydratase deficiency in a patient with an unusual late-onset porphyria. ( 11071662 )
2000
4
Investigations on the formation of urinary coproporphyrin isomers I-IV in 5-aminolevulinic acid dehydratase deficiency porphyria, acute lead intoxication and after oral 5-aminolevulinic acid loading. ( 10211628 )
1999
5
5-Aminolevulinic acid dehydratase deficiency porphyria: a twenty-year clinical and biochemical follow-up. ( 9732973 )
1998
6
A case of aminolevulenic acid dehydratase deficiency porphyria (ALADP) ( 10771869 )
1997
7
delta-Aminolevulinic acid dehydratase deficiency porphyria (ADP) with syndrome of inappropriate secretion of antidiuretic hormone (SIADH) in a 69-year-old woman. ( 7490911 )
1995
8
[delta-Aminolevulinate dehydratase deficiency]. ( 7616655 )
1995
9
Liver transplantation in a boy with acute porphyria due to aminolaevulinate dehydratase deficiency. ( 1493152 )
1992
10
Suspected pterin-4a-carbinolamine dehydratase deficiency: hyperphenylalaninaemia due to inhibition of phenylalanine hydroxylase by tetrahydro-7-biopterin. ( 1405480 )
1992
11
Hyperphenylalaninaemia presumably due to carbinolamine dehydratase deficiency: loading tests with pterin derivatives. ( 1405481 )
1992
12
7-substituted pterins in humans with suspected pterin-4a-carbinolamine dehydratase deficiency. Mechanism of formation via non-enzymatic transformation from 6-substituted pterins. ( 1355046 )
1992
13
Hereditary hepatic porphyria due to homozygous delta-aminolevulinic acid dehydratase deficiency: studies in lymphocytes and erythrocytes. ( 1905639 )
1991
14
Message amplification phenotyping of an inherited delta-aminolevulinate dehydratase deficiency in a family with acute hepatic porphyria. ( 2222472 )
1990
15
Porphyric neuropathy and hereditary delta-aminolevulinic acid dehydratase deficiency in an adult. ( 2338564 )
1990
16
Enzymatic defect in a child with hereditary hepatic porphyria due to homozygous delta-aminolevulinic acid dehydratase deficiency: immunochemical studies. ( 3684400 )
1987
17
Porphobilinogen-synthase (delta-aminolevulinic acid dehydratase) deficiency in bone marrow cells of two patients with porphobilinogen-synthase defect acute porphyria. ( 6887758 )
1983
18
Tyrosinemia with aminolevulinic dehydratase deficiency. ( 621624 )
1978
19
Tyrosinemia with acute intermittent porphyria: aminolevulinic acid dehydratase deficiency related to elevated urinary aminolevulinic acid levels. ( 839332 )
1977

Variations for Hyperphenylalaninemia Due to Dehydratase Deficiency

Expression for Hyperphenylalaninemia Due to Dehydratase Deficiency

Search GEO for disease gene expression data for Hyperphenylalaninemia Due to Dehydratase Deficiency.

Pathways for Hyperphenylalaninemia Due to Dehydratase Deficiency

GO Terms for Hyperphenylalaninemia Due to Dehydratase Deficiency

Sources for Hyperphenylalaninemia Due to Dehydratase Deficiency

3 CDC
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
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75 UMLS via Orphanet
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