MCID: HYP171
MIFTS: 16

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 53
Hyperphenylalaninemia with Primapterinuria 53 72
Tetrahydrobiopterin -Deficient Hyperphenylalaninemia Due to Pterin-4-Alpha-Carbinolamine Dehydratase Deficiency 53
Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due to Pterin-4-Alpha-Carbinolamine Dehydratase Deficiency 53
Hyperphenylalaninemia Due to Pterin-4-Alpha-Carbinolamine Dehydratase Deficiency 53
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency 53
Hyperphenylalaninemia, Bh4-Deficient, D 53
Dehydratase Deficiency 53
Cadh Deficiency 53
Pcbd Deficiency 53

Classifications:



External Ids:

UMLS 72 C1849700

Summaries for Hyperphenylalaninemia Due to Dehydratase Deficiency

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1578DefinitionDehydratase 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. Affiliated tissues include liver, testes and bone.

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 21)
# Related Disease Score Top Affiliating Genes
1 aminolevulinic acid dehydratase deficiency porphyria 12.6
2 aminolevulinate dehydratase deficiency porphyria 12.4
3 nad hx dehydratase deficiency 12.3
4 porphyria, acute hepatic 11.9
5 porphyria 11.7
6 hyperphenylalaninemia, bh4-deficient, d 11.6
7 acute porphyria 10.3
8 tyrosinemia 10.2
9 hyperphenylalaninemia 10.2
10 polyneuropathy 10.1
11 alcohol dependence 9.9
12 porphyria, acute intermittent 9.9
13 tyrosinemia, type ii 9.9
14 tyrosinemia, type i 9.9
15 bronchopneumonia 9.9
16 guillain-barre syndrome 9.9
17 myeloproliferative neoplasm 9.9
18 inappropriate adh syndrome 9.9
19 polycythemia 9.9
20 neuropathy 9.9
21 syndrome of inappropriate antidiuretic hormone 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

Search Clinical Trials , 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:

41
Liver, Testes, Bone, Bone Marrow

Publications for Hyperphenylalaninemia Due to Dehydratase Deficiency

Articles related to Hyperphenylalaninemia Due to Dehydratase Deficiency:

(show all 44)
# Title Authors PMID Year
1
Clinical Remission of Delta-Aminolevulinic Acid Dehydratase Deficiency Through Suppression of Erythroid Heme Synthesis. 38
30724374 2019
2
Heme biosynthesis and the porphyrias. 38
31326287 2019
3
Acute Hepatic Porphyrias: Review and Recent Progress. 38
30766957 2019
4
Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations. 38
30385147 2018
5
NAD(P)HX repair deficiency causes central metabolic perturbations in yeast and human cells. 38
30098110 2018
6
Hepatic porphyria: A narrative review. 38
27796941 2016
7
Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias. 38
26132003 2015
8
Clinically important features of porphyrin and heme metabolism and the porphyrias. 38
25372274 2014
9
Best practice guidelines on clinical management of acute attacks of porphyria and their complications. 38
23605132 2013
10
The acute hepatic porphyrias: current status and future challenges. 38
20955962 2010
11
Treatment options in acute porphyria, porphyria cutanea tarda, and erythropoietic protoporphyria. 38
18221605 2007
12
Acute Intermittent Porphyria 38
20301372 2005
13
Neurovisceral porphyrias: what a hematologist needs to know. 38
16304355 2005
14
The third case of Doss porphyria (delta-amino-levulinic acid dehydratase deficiency) in Germany. 38
15303011 2004
15
Human hereditary hepatic porphyrias. 38
12367763 2002
16
Survival of two patients with severe delta-aminolaevulinic acid dehydratase deficiency porphyria. 38
11286384 2001
17
Molecular analysis of delta-aminolevulinate dehydratase deficiency in a patient with an unusual late-onset porphyria. 38
11071662 2000
18
Erythropoietic and hepatic porphyrias. 38
11117426 2000
19
The cutaneous porphyrias. 38
10604794 1999
20
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. 38
10211628 1999
21
5-Aminolevulinic acid dehydratase deficiency porphyria: a twenty-year clinical and biochemical follow-up. 38
9732973 1998
22
Acute porphyrias: pathogenesis of neurological manifestations. 38
9516677 1998
23
Hepatic porphyrias in children. 38
9211196 1997
24
A case of aminolevulenic acid dehydratase deficiency porphyria (ALADP) 38
10771869 1997
25
International database of tetrahydrobiopterin deficiencies. 38
8830181 1996
26
[delta-Aminolevulinate dehydratase deficiency]. 38
7616655 1995
27
[Porphyrin-synthesizing enzymes in erythrocyte]. 38
7616649 1995
28
delta-Aminolevulinic acid dehydratase deficiency porphyria (ADP) with syndrome of inappropriate secretion of antidiuretic hormone (SIADH) in a 69-year-old woman. 38
7490911 1995
29
Liver transplantation in a boy with acute porphyria due to aminolaevulinate dehydratase deficiency. 38
1493152 1992
30
7-substituted pterins in humans with suspected pterin-4a-carbinolamine dehydratase deficiency. Mechanism of formation via non-enzymatic transformation from 6-substituted pterins. 38
1355046 1992
31
Suspected pterin-4a-carbinolamine dehydratase deficiency: hyperphenylalaninaemia due to inhibition of phenylalanine hydroxylase by tetrahydro-7-biopterin. 38
1405480 1992
32
Hyperphenylalaninaemia presumably due to carbinolamine dehydratase deficiency: loading tests with pterin derivatives. 38
1405481 1992
33
Hereditary hepatic porphyria due to homozygous delta-aminolevulinic acid dehydratase deficiency: studies in lymphocytes and erythrocytes. 38
1905639 1991
34
delta-Aminolevulinic acid dehydratase deficiency can cause delta-aminolevulinate auxotrophy in Escherichia coli. 38
1987138 1991
35
Message amplification phenotyping of an inherited delta-aminolevulinate dehydratase deficiency in a family with acute hepatic porphyria. 38
2222472 1990
36
Porphyric neuropathy and hereditary delta-aminolevulinic acid dehydratase deficiency in an adult. 38
2338564 1990
37
Biochemical diagnosis of an hereditary aminolaevulinate dehydratase deficiency in a 63-year-old man. 38
2600550 1989
38
Enzymatic defect in a child with hereditary hepatic porphyria due to homozygous delta-aminolevulinic acid dehydratase deficiency: immunochemical studies. 38
3684400 1987
39
Lead poisoning in inherited delta-aminolevulinic acid dehydratase deficiency. 38
6427116 1984
40
Threonine dehydratase deficiency: a probable cause of non-ketotic hyperglycinaemia. 38
6434824 1984
41
Porphobilinogen-synthase (delta-aminolevulinic acid dehydratase) deficiency in bone marrow cells of two patients with porphobilinogen-synthase defect acute porphyria. 38
6887758 1983
42
Tyrosinemia with aminolevulinic dehydratase deficiency. 38
621624 1978
43
Tyrosinemia with acute intermittent porphyria: aminolevulinic acid dehydratase deficiency related to elevated urinary aminolevulinic acid levels. 38
839332 1977
44
6-Phosphogluconate dehydratase deficiency in pleiotropic carbohydrate-negative mutant strains of Pseudomonas aeruginosa. 38
163817 1975

Variations for Hyperphenylalaninemia Due to Dehydratase Deficiency

Expression for Hyperphenylalaninemia Due to Dehydratase Deficiency

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GO Terms for Hyperphenylalaninemia Due to Dehydratase Deficiency

Sources for Hyperphenylalaninemia Due to Dehydratase Deficiency

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