Phenylketonuria malady

MedlinePlus: Phenylketonuria (pku) is a genetic disorder in which the body can't process part of a protein called phenylalanine (phe). phe is in almost all foods. if the phe level gets too high, it can damage the brain and cause severe mental retardation. all babies born in u.s. hospitals must now have a screening test for pku. this makes it easier to diagnose and treat the problem early. the best treatment for pku is a diet of low-protein foods. there are special formulas for newborns. for older children and adults, the diet includes many fruits and vegetables. it also includes some low-protein breads, pastas and cereals. nutritional formulas provide the vitamins and minerals they can't get from their food. babies who get on this special diet soon after they are born develop normally. many have no symptoms of pku. it is important that they stay on the diet for the rest of their lives. nih: national institute of child health and human development²³

MalaCards: Phenylketonuria, also known as pku, is related to hyperphenylalaninemia and dihydropteridine reductase deficiency. An important gene associated with Phenylketonuria is QDPR (quinoid dihydropteridine reductase), and among its related pathways are Metabolism of amino acids and derivatives and Folate biosynthesis. The compounds nadph and 6-pyruvoyltetrahydropterin have been mentioned in the context of this disorder. Affiliated tissues include whole blood, brain and cortex, and related mouse phenotypes are hematopoietic system and endocrine/exocrine gland.

Disease Ontology: An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (pah), rendering it nonfunctional.⁶

NIH Rare Diseases: Phenylketonuria (PKU) is an inherited condition that is caused by toxic levels of phenylalanine in the body. If left untreated, this buildup of phenylalanine can cause severe intellectual disabilities.  Because PKU can be detected by a simple blood test and is treatable, newborn screening is available for this disorder³⁰

Genetics Home Reference: Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in all proteins and in some artificial sweeteners. If PKU is not treated, phenylalanine can build up to harmful levels in the body, causing intellectual disability and other serious health problems.¹⁷

Wikipedia: Phenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder characterized by a mutation...⁴⁴ more...

OMIM: 261600

GeneReviews summary for pku

Aliases & Descriptions:

phenylketonuria 6 7 44 30 16 17 8 33 23 pku 6 44 30 16 17 folling disease 44 30 16 17 phenylalanine hydroxylase deficiency 15 30 16 deficiency disease, phenylalanine hydroxylase 44 17 phenylalanine hydroxylase deficiency disease 44 17 classical phenylketonuria 44 43 maternal phenylketonuria 6 8 phenylketonurias 32 43

pah deficiency 15 17 carbamoyl-phosphate synthase i deficiency disease 43 oligophrenia phenylpyruvica 30 phenylketonuria classical 32 phenylketonuria, maternal 43 phenylketonuria maternal 32 f& 248;lling's disease 6 phenylalaninemia 6 pah 16

Disease types for phenylketonuria family:

phenylketonuria due to pts deficiency

Diseases related to phenylketonuria by text searches and GeneDecks gene sharing:

(show top 50)    (show all 445)

id	Related Disease	Score	Top Affiliating Genes
1	hyperphenylalaninemia	31.2	PCBD1, GCH1, BGLAP, PAH, QDPR, CAT
2	dihydropteridine reductase deficiency	30.6	PAH, QDPR, PTS, SPR, TH, SLC6A3
3	tyrosinemia	30.3	BTD, PAH, GSTZ1, HPD, PTS
4	autoimmune polyendocrine syndrome	29.6	PAH, TPH1, TH
5	hermansky-pudlak syndrome	28.8	GCH1, PAH, CAT, TYR
6	eczema	28.7	PAH, LBR, MAOB, CSN1S1, ADIPOQ
7	galactosemia	28.5	BTD, OTC, ACADM, G6PD
8	congenital hypothyroidism	28.4	BTD, BGLAP, ALB, ACHE, ACADM, G6PD
9	cystinuria	28.3	MTHFR, OTC, SLC1A5, SLC7A5
10	tetrahydrobiopterin deficiency	28.0	PCBD1, GCH1, PAH, QDPR, TPH1, PTS
11	rickets	28.0	BGLAP, ALB, ALPP, TNFRSF11B
12	intellectual disability	27.6	PAH, MTRR, MTR, QDPR, ALB, OTC
13	hernia	27.6	PAH, HTR3A, ALB, GHRL, TF
14	adrenal hyperplasia	27.6	BTD, ALPP, GNRH1, ACADM, ADIPOQ, HADHA
15	vitiligo	27.4	PCBD1, GCH1, PAH, QDPR, GPX1, CAT
16	hemolytic anemia	27.2	G6PD, HBB, TF, TFRC
17	tardive dyskinesia	25.7	PAH, MAOB, GPX1, CAT, TPH1, DRD2
18	hypothyroidism	25.2	BTD, BGLAP, ALB, ALPP, GNRH1, GHRL
19	glycogen storage disease	25.2	BTD, PAH, MTHFR, ALB, CAT, HNF1A
20	parkinson's disease	25.0	GCH1, PAH, MTR, MAOB, GPX1, HTR3A
21	bipolar disorder	24.2	GCH1, PAH, MTRR, MTHFR, MTR, S100B
22	anorexia nervosa	23.3	BGLAP, PAH, LBR, QDPR, HTR3A, ALB
23	cystic fibrosis	22.7	BTD, BGLAP, PAH, LBR, ALB, ALPP
24	hepatocellular carcinoma	22.3	BTD, PAH, MTRR, MTHFR, MTR, GPX1
25	anemia	21.3	MVK, MTRR, MTHFR, MTR, S100B, GPX4
26	fibrosis	21.3	BTD, BGLAP, PAH, LBR, MTHFR, ALB
27	homocysteine	21.1	BTD, MTRR, MTHFR, MTR, FOLH1, GPX1
28	hypoxia	20.4	BGLAP, S100B, FOLH1, GPX1, HTR3A, ALB
29	multiple sclerosis	20.2	BTD, PAH, LBR, MTHFR, MTR, S100B
30	breast cancer	19.4	PCBD1, BTD, BGLAP, LBR, MTRR, MTHFR
31	hepatitis	18.6	PCBD1, BTD, BGLAP, PAH, MVK, LBR
32	neuronitis	18.4	GCH1, BTD, RABEP1, PAH, LBR, MTRR
33	schizophrenia	18.1	GCH1, PAH, LBR, MTRR, MTHFR, MTR
34	prostatitis	18.1	BGLAP, PAH, MTRR, MTHFR, MTR, S100B
35	cerebritis	16.6	BTD, BGLAP, PAH, MTHFR, MTR, S100B
36	carcinoma	15.9	PCBD1, BTD, RABEP1, BGLAP, PAH, LBR
37	organic acidemia	13.8	BTD, HMGCL, ACADM
38	gtp cyclohydrolase i deficiency	13.7	GCH1, QDPR, PTS, TH
39	multiple carboxylase deficiency	13.7	BTD, HMGCL, OTC, ACADM
40	lactic acidosis	13.7	BTD, GSTZ1, PDP1, HADHA
41	medium-chain acyl-coenzyme a dehydrogenase deficiency	13.7	OTC, ACADM
42	reye syndrome	13.7	HMGCL, OTC, ACADM, HADHA
43	lysinuric protein intolerance	13.7	OTC, G6PD, SLC7A5
44	cervical dystonia	13.7	GCH1, SPR, TH
45	segawa syndrome	13.7	GCH1, TH
46	tyrosine hydroxylase deficiency	13.6	GCH1, TH
47	keshan disease	13.6	GPX4, GPX5, GPX1
48	21-hydroxylase deficiency	13.6	BTD, GNRH1, ACADM, HADHA
49	autistic disorder	13.5	HTR3A, TH, CSN1S1, ADSL
50	neural tube defects, folate-sensitive	13.5	MTRR, MTR

Clinical features from OMIM: 261600

Approved drugs:

Drug clinical trials:

Cell-based therapeutics:

Hepatocytes, PMIDs: 15239608, 9580649, 22167636, 12777539

Genetic tests related to phenylketonuria:

id	Genetic test	Affiliating Genes
1	Phenylketonuria clinical/research	PAH

MalaCards organs/tissues related to phenylketonuria:

²²

id	Organ / Tissue -> Anatomical Compartment -> Cell	Relevance
1	Liver -> Liver Lobule -> Hepatocytes	Potential therapeutic candidate, affected by disease

MGI Mouse Phenotypes related to phenylketonuria:

²⁵ (show all 15)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hematopoietic system phenotype	MP:0005397	9.7	GSTZ1, CACNA1A, OTC, TFRC
2	endocrine/exocrine gland phenotype	MP:0005379	9.7	TYR, OTC, PTS, GNRH1
3	liver/biliary system phenotype	MP:0005370	9.3	HADHA, TH, HBB, ACADM, OTC, DRD2
4	renal/urinary system phenotype	MP:0005367	8.5	HNF1A, DRD2, OTC, HBB, TYR, HADHA
5	integument phenotype	MP:0010771	7.6	PTS, OTC, NIPSNAP1, HBB, TYR, TH
6	cardiovascular system phenotype	MP:0005385	7.3	HBB, HCRT, TYR, TH, TFRC, ADIPOQ
7	skeleton phenotype	MP:0005390	7.3	TYR, HBB, PPARG, DRD2, TNFRSF11B, HNF1A
8	reproductive system phenotype	MP:0005389	7.3	OTC, ACHE, HBB, TYR, CSN1S1, SLC6A3
9	muscle phenotype	MP:0005369	7.3	HADHA, ADIPOQ, SLC6A3, HCRT, ACADM, ACHE
10	no phenotypic analysis	MP:0003012	7.2	TYR, ACHE, PPARG, DRD2, GHRL, HNF1A
11	nervous system phenotype	MP:0003631	6.4	OTC, SPR, ACHE, G6PD, HBB, HCRT
12	behavior/neurological phenotype	MP:0005386	5.7	PTS, OTC, SPR, PPARG, NIPSNAP1, ACHE
13	growth/size phenotype	MP:0005378	5.5	ACHE, SPR, OTC, PTS, DRD2, HBB
14	mortality/aging	MP:0010768	4.6	G6PD, ACADM, ACHE, PPARG, SPR, TYR
15	homeostasis/metabolism phenotype	MP:0005376	2.5	HADHA, PTS, OTC, SPR, PPARG, NIPSNAP1

Articles related to phenylketonuria:

(show top 50)    (show all 217)

id	Title	Authors	Year	Affiliating Genes
1	Mutations of the phenylalanine hydroxylase gene in Ir anian Azeri Turkish patients with phenylketonuria. (20187763)	Bonyadi M.... Shiva S.	2010	PAH
2	Mutation analysis of phenylketonuria patients from Mo rocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X. (19786003)	Dahri S.... Chabraoui L.	2010	PAH
3	Breakfast with glycomacropeptide compared with amino acids suppresses plasma ghrelin levels in individuals with phenylketonuria. (20466571)	MacLeod E.L.... Ney D.M.	2010	GHRL
4	Connecting mutant phenylalanine hydroxylase with phenylketonuria. (18773304)	Yan S.... Wu G.	2008	PAH
5	Preclinical evaluation of multiple species of PEGylated recombinant phenylalanine ammonia lyase for the treatment of phenylketonuria. (19095795)	Sarkissian C.N.... Scriver C.R.	2008	PAH
6	Impact of neonatal protein metabolism and nutrition on screening for phenylketonuria. (18493213)	Ponzone A.... Ferraris S.	2008	PAH
7	Sapropterin dihydrochloride, 6-R-L-erythro-5,6,7,8-te trahydrobiopterin, in the treatment of phenylketonuria. (18230057)	Michals-Matalon K.	2008	QDPR
8	Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability. (18538294)	Gersting S.W.... Muntau A.C.	2008	PAH
9	Diagnosis of tetrahydrobiopterin (BH4) responsive mil d phenylketonuria in Japan over the past 10 years. (19904458)	Shintaku H.... Yamano T.	2008	PAH
10	Dehydrogenase based reagentless biosensor for monitoring phenylketonuria. (17029777)	Weiss D.J.... Peterson L.	2007	PDP1
11	Coenzyme Q10 in phenylketonuria and mevalonic aciduria. (17442628)	Hargreaves I.P.	2007	PAH, MVK
12	Administration-route and gender-independent long-term therapeutic correction of phenylketonuria (PKU) in a mouse model by recombinant adeno-associated virus 8 pseudotyped vector-mediated gene transfer. (16319947)	Ding Z.... ThAPny B.	2006	PAH
13	Reversal of gene expression profile in the phenylketonuria mouse model after adeno-associated virus vector-mediated gene therapy. (16150627)	Oh H.J.... Jung S.C.	2005	PAH
14	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. (16154435)	Schulpis K.H.... Chrousos G.P.	2005	ADIPOQ
15	Phenylketonuria mutations in Northern China. (16256386)	Song F.... Zheng X.Y.	2005	PAH
16	Expression of calpastatin, minopontin, NIPSNAP1, rabaptin-5 and neuronatin in the phenylketonuria (PKU) mouse brain: possible role on cognitive defect seen in PKU. (15863237)	Surendran S.... Matalon R.	2005	NIPSNAP1, RABEP1, NNAT
17	Long-term follow-up of a patient with mild tetrahydro biopterin-responsive phenylketonuria. (14741196)	Cerone R.... Blau N.	2004	PAH
18	The fate of intravenously administered tetrahydrobiopterin and its implications for heterologous gene therapy of phenylketonuria. (14728991)	Harding C.O.... Milstien S.	2004	PAH
19	Serum levels of neural protein S-100B in phenylketonuria. (14675567)	Schulpis K.H.... Papassotiriou I.	2004	S100B
20	High level of orexin A observed in the phenylketonuria mouse brain is due to the abnormal expression of prepro-orexin. (15063788)	Surendran S.... Matalon R.	2004	HCRT
21	MAOB: a modifier gene in phenylketonuria? (15461973)	Ghozlan A.... Munnich A.	2004	MAOB
22	Hyperphenylalaninemia in a premature infant with heterozygosity for phenylketonuria. (15346830)	Hennermann J.B.... MAPnch E.	2004	PAH
23	Iron status of children with phenylketonuria undergoing nutrition therapy assessed by transferrin receptors. (15017332)	Acosta P.B.... Steiner R.D.	2004	TFRC
24	Ten novel mutations in the phenylalanine hydroxylase gene identified in Chinese patients with phenylketonuria (12905706)	Song F.... Zhang T.	2003	PAH
25	Ten novel mutations in the phenylalanine hydroxylase gene (PAH) observed in Brazilian patients with phenylketonuria. (11139255)	Acosta A.X.... Zago M.A.	2001	PAH
26	Molecular basis of phenylketonuria in Cuba. (11524738)	Desviat L.R.... Ugarte M.	2001	PAH
27	A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria. (11405341)	Erlandsen H.... Stevens R.C.	2001	PAH
28	Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype-phenotype correlations in phenylketonuria. (10980574)	Jennings I.G.... Kobe B.	2000	PAH
29	Expression analysis of phenylketonuria mutations. Effect on folding and stability of the phenylalanine hydroxylase protein. (10875932)	GA!mez A.... Desviat L.R.	2000	PAH
30	Relationship among genotype, biochemical phenotype, and cognitive performance in females with phenylalanine hydroxylase deficiency: report from the Maternal Phenylketonuria Collaborative Study. (10429004)	GA1ttler F.... Koch R.	1999	PAH
31	Plasma micronutrient concentrations in infants undergoing therapy for phenylketonuria. (10065600)	Acosta P.B.... Yannicelli S.	1999	TF
32	Two novel mutations in exon 11 of the PAH gene (1163/1164 del TG and P362T) associated with classic phenylketonuria and mild phenylketonuria. (10200057)	Mallolas J.... Milo M.	1998	PAH
33	Phenylalanine and tyrosine metabolism in phenylketonuria heterozygotes: influence of different phenylalanine hydroxylase mutations. (9686365)	Spada M.... Ponzone A.	1998	PAH
34	Mutation analysis of the phenylalanine hydroxylase gene and its clinical implications in two Japanese patients with non- phenylketonuria hyperphenylalaninemia. (9852673)	Kibayashi M.... Chiba S.	1998	PAH
35	Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria. (9642259)	Fusetti F.... Stevens R.C.	1998	TH, PAH
36	Relationship between mutation genotype and biochemical phenotype in a heterogeneous Spanish phenylketonuria population. (9359039)	Desviat L.R.... Ugarte M.	1997	PAH
37	Molecular genetic analysis of phenylketonuria in Bashkiria (9378295)	Viktorova T.V.... Khusnutdinova E.K.	1997	PAH
38	The phenylalanine hydroxylase locus: a marker for the history of phenylketonuria and human genetic diversity. PAH Mutation Analysis Consortium. (8827369)	Scriver C.R.... Hoang L.	1996	PAH
39	Characterization of phenylalanine hydroxylase alleles in untreated phenylketonuria patients from Victoria, Australia: origin of alleles and haplotypes. (7726156)	Ramus S.J.... Cotton R.G.	1995	PAH
40	Population genetics of phenylketonuria. (7766949)	Eisensmith R.C.... Woo S.L.	1994	PAH
41	Gene therapy for phenylketonuria. (7766948)	Eisensmith R.C.... Woo S.L.	1994	PAH
42	Gypsy phenylketonuria: a point mutation of the phenylalanine hydroxylase gene in Gypsy families from Slovakia. (8116675)	Kalanin J.... Matsuoka A.	1994	PAH
43	Identification of a missense phenylketonuria mutation at codon 408 in Chinese. (1355066)	Lin C.H.... Su T.S.	1992	PAH
44	A defective splice site at the phenylalanine hydroxylase gene in phenylketonuria and benign hyperphenylalaninemia among Palestinian Arabs. (1301942)	Kleiman S.... Shiloh Y.	1992	PAH
45	Phenylketonuria in U.S. blacks: molecular analysis of the phenylalanine hydroxylase gene. (2014802)	Hofman K.J.... Valle D.	1991	PAH
46	The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria. (1679030)	Konecki D.S.... Lichter-Konecki U.	1991	PAH
47	Phenylketonuria missense mutations in the Mediterranean. (1672294)	Okano Y.... Woo S.L.C.	1991	PAH
48	Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutation. (1915502)	Superti-Furga A.... Gitzelmann R.	1991	PAH
49	A single origin of phenylketonuria in Yemenite Jews. (1968617)	Avigad S.... Shiloh Y.	1990	PAH
50	Phenylketonuria in the Greek population. Haplotype analysis of the phenylalanine hydroxylase gene and identification of a PKU mutation. (2615649)	Hofman K.J.... Valle D.	1989	PAH

Genes related to phenylketonuria according to GeneCards:

(show top 50)    (show all 58)

id	Symbol	Description	Score	GeneCards Section Context
1	QDPR	quinoid dihydropteridine reductase	11.1	Summaries, Publications, Orthologs
2	PAH	phenylalanine hydroxylase	11.1	Publications, Orthologs, Summaries
3	GSTZ1	glutathione S-transferase zeta 1	11.0	Summaries
4	PTS	6-pyruvoyltetrahydropterin synthase	11.0	Publications
5	PCBD1	pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha	11.0
6	PSPH	phosphoserine phosphatase	11.0
7	ADSL	adenylosuccinate lyase	11.0
8	BTD	biotinidase	11.0	Publications
9	HCRT	hypocretin (orexin) neuropeptide precursor	11.0	Publications
10	SLC7A5	solute carrier family 7 (amino acid transporter light chain, L system), member 5	11.0	Publications
11	TPH1	tryptophan hydroxylase 1	11.0
12	HADHA	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	11.0
13	TH	tyrosine hydroxylase	11.0	Publications
14	LBR	lamin B receptor	11.0	Publications
15	OTC	ornithine carbamoyltransferase	11.0	Publications
16	ACADM	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	11.0
17	CSN1S1	casein alpha s1	11.0
18	G6PD	glucose-6-phosphate dehydrogenase	11.0	Publications
19	TTR	transthyretin	11.0	Publications
20	HBB	hemoglobin, beta	11.0
21	NNAT	neuronatin	11.0	Publications
22	NIPSNAP1	nipsnap homolog 1 (C. elegans)	11.0	Publications
23	GPX5	glutathione peroxidase 5 (epididymal androgen-related protein)	11.0
24	SLC1A5	solute carrier family 1 (neutral amino acid transporter), member 5	11.0
25	SPR	sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)	11.0
26	MVK	mevalonate kinase	11.0	Publications
27	PDP1	pyruvate dehyrogenase phosphatase catalytic subunit 1	11.0	Publications
28	HPD	4-hydroxyphenylpyruvate dioxygenase	11.0	Publications
29	HMGCL	3-hydroxymethyl-3-methylglutaryl-CoA lyase	11.0
30	GPX4	glutathione peroxidase 4	11.0
31	FOLH1	folate hydrolase (prostate-specific membrane antigen) 1	11.0	Publications
32	CANT1	calcium activated nucleotidase 1	11.0	Publications
33	RABEP1	rabaptin, RAB GTPase binding effector protein 1	11.0	Publications
34	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	11.0	Publications
35	GCH1	GTP cyclohydrolase 1	11.0
36	HNF1A	HNF1 homeobox A	11.0	Publications
37	MAOB	monoamine oxidase B	11.0	Publications
38	GPX1	glutathione peroxidase 1	11.0
39	MTR	5-methyltetrahydrofolate-homocysteine methyltransferase	11.0	Publications
40	TFRC	transferrin receptor (p90, CD71)	11.0	Publications
41	GHRL	ghrelin/obestatin prepropeptide	11.0	Publications
42	TNFRSF11B	tumor necrosis factor receptor superfamily, member 11b	11.0	Publications
43	ALPP	alkaline phosphatase, placental	11.0	Publications
44	S100B	S100 calcium binding protein B	11.0	Publications
45	HTR3A	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	11.0	Publications
46	GNRH1	gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)	11.0	Publications
47	TF	transferrin	11.0	Publications
48	ADIPOQ	adiponectin, C1Q and collagen domain containing	11.0	Publications
49	ACHE	acetylcholinesterase	11.0	Publications
50	TYR	tyrosinase (oculocutaneous albinism IA)	11.0

Pathways related to phenylketonuria according to GeneDecks:

(show all 14)

id	Pathway	Score	Top Affiliating Genes
1	Metabolism of amino acids and derivatives38	10.2	TH, TPH1, HPD, GSTZ1, QDPR, PCBD1
2	Folate biosynthesis20	10.1	SPR, PTS, ALPP, QDPR, GCH1
3	Phenylalanine metabolism20	10.1	PAH, MAOB, HPD
4	Glutathione metabolism10	10.1	GPX1, GPX5, GPX4, GSTZ1
5	Glutathione metabolism20	10.1	G6PD, GPX1, GPX5, GPX4, GSTZ1
6	Tyrosine metabolism p.1 (dopamine)41	10.1	TH, TYR, MAOB, PAH
7	Glutathione metabolism41	10.1	GSTZ1, GPX4, GPX5, GPX1
8	Tyrosine metabolism p.1 (dopamine)10	10.0	TH, TYR, MAOB, PAH
9	Tyrosine metabolism20	10.0	TH, TYR, HPD, MAOB, GSTZ1
10	Metabolism38	9.9	G6PD, SPR, PTS, GCH1
11	Tryptophan metabolism20	9.5	HADHA, TPH1, CAT, MAOB
12	Antimetabolite Pathway - Folate Cycle, Pharmacodynamics34	9.3	MTRR, MTHFR, MTR
13	Glucose / Energy Metabolism3	8.2	ADIPOQ, SLC7A5, SLC1A5, TYR, G6PD, PPARG
14	Metabolic pathways20	7.1	GCH1, PTS, OTC, SPR, ACADM, G6PD

Compounds related to phenylketonuria according to GeneDecks:

(show top 50)    (show all 267)

id	Compound	Score	Top Affiliating Genes
1	nadph32 18	11.3	SPR, PTS, GCH1, QDPR
2	6-pyruvoyltetrahydropterin32	10.3	GCH1, QDPR, TH, SPR, PTS, PCBD1
3	dihydropteridine32 18	11.2	TH, SPR, PTS, QDPR, GCH1, PAH
4	sepiapterin32 18	11.2	GCH1, PAH, QDPR, TPH1, PTS, SPR
5	pterin32 18	11.2	PAH, PCBD1, QDPR, TPH1, PTS, SPR
6	dihydrobiopterin32 18	11.0	PCBD1, GCH1, PAH, QDPR, TPH1, SPR
7	glucose32	10.0	GCH1, PDP1, S100B, OTC, HADHA, BTD
8	phenylalanine32	9.8	QDPR, HNF1A, TPH1, SPR, TTR, TH
9	histidine32	9.7	FOLH1, S100B, MTR, PTS, MVK, HBB
10	5-hydroxytryptophan32	9.5	QDPR, HTR3A, TPH1, PTS, TYR, TH
11	citrate32	9.5	PDP1, TFRC, HADHA, CSN1S1, CAT
12	catecholamine32	9.2	S100B, PTS, TH, MAOB, PAH, GCH1
13	tetrahydrobiopterin32 9 18 9	12.1	TH, PCBD1, GCH1, PAH, QDPR, CAT
14	aspartate32	9.0	PAH, S100B, FOLH1, GNRH1, TNFRSF11B, OTC
15	epinephrine32 9 18 9	11.9	DRD2, TH, LBR, TTR, HCRT, MAOB
16	palmitate32	8.7	ACADM, TYR, CSN1S1, TF, PDP1, PPARG
17	nitric oxide32 9 18 9	11.6	MTR, S100B, GPX1, CANT1, GHRL, TPH1
18	sodium nitroprusside32	8.6	CAT, TPH1, G6PD, TF, GNRH1, TH
19	oxygen32 18	9.4	TH, ACADM, HBB, G6PD, PTS, TPH1
20	5-hydroxytryptamine32	8.4	TPH1, TH, MAOB, HTR3A, GNRH1, SLC6A3
21	cocaine32 9 9	10.3	MAOB, SLC6A3, GHRL, S100B, ALPP, GNRH1
22	homocysteine32 18	9.2	FOLH1, MTR, ALB, TNFRSF11B, TTR, ADIPOQ
23	vitamin b1232	8.2	G6PD, TTR, TF, TFRC, CSN1S1, ALPP
24	gaba32 42	9.1	SLC6A3, TF, TH, HCRT, DRD2, TPH1
25	h2o232	8.0	PAH, LBR, QDPR, MAOB, GPX4, GPX1
26	testosterone32 9 18 9	10.9	TH, TTR, TFRC, TYR, G6PD, CSN1S1
27	adenylate32	7.9	TYR, HCRT, HBB, DRD2, S100B, GHRL
28	alpha tocopherol32	7.8	BGLAP, MAOB, MTHFR, GPX4, GPX1, ALB
29	levodopa32 9 9	9.8	PAH, MTHFR, QDPR, MAOB, CAT, TPH1
30	iron32 18	8.8	PAH, TF, TFRC, TH, TTR, HBB
31	folate32	7.7	TFRC, GCH1, PAH, MTRR, MTHFR, MTR
32	tyrosine32	7.7	TPH1, SLC7A5, CANT1, GPX1, GSTZ1, TH
33	creatinine32	7.6	CSN1S1, ADSL, ADIPOQ, HADHA, TFRC, TF
34	ascorbic acid32 18	8.6	G6PD, TYR, TTR, TF, TFRC, CSN1S1
35	alanine32	7.4	HBB, QDPR, S100B, MVK, PAH, BGLAP
36	thyroxine32 18	8.4	BGLAP, ALB, ALPP, GNRH1, GHRL, TNFRSF11B
37	acetylcholine32 9 18 9	10.4	ADIPOQ, SLC6A3, CSN1S1, LBR, S100B, QDPR
38	glutamate32	7.4	ACADM, MTRR, HADHA, MTR, OTC, PTS
39	glutamine32	7.4	G6PD, HBB, TTR, TH, TF, TFRC
40	norepinephrine32 9 18 9	10.3	GCH1, PAH, LBR, S100B, QDPR, MAOB
41	arginine32	7.3	TTR, TFRC, CSN1S1, SLC6A3, SLC7A5, ADIPOQ
42	cysteine32	7.0	MTHFR, MTR, S100B, FOLH1, MAOB, ALB
43	lactate32	6.9	CAT, GHRL, OTC, PDP1, ACADM, G6PD
44	vitamin d32	6.8	TYR, PPARG, ALPP, TTR, TFRC, MTHFR
45	dopamine32 9 18 9	9.8	GCH1, PAH, MTHFR, S100B, MAOB, HTR3A
46	dexamethasone32 42 34 9 9	10.7	TYR, TNFRSF11B, GHRL, HNF1A, PPARG, HCRT
47	cholesterol32 9 18 9	9.6	GHRL, HNF1A, CANT1, ALB, GPX1, GPX4
48	lipid32	6.3	MVK, PPARG, OTC, PTS, QDPR, GPX4
49	serine32	5.9	TNFRSF11B, GHRL, CACNA1A, ALPP, MAOB, FOLH1
50	estrogen32	5.7	HBB, HCRT, TTR, G6PD, MAOB, S100B

Cellular components related to phenylketonuria according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	axon	GO:030424	9.2	HTR3A, GHRL, DRD2, ACADM, SLC6A3
2	mitochondrion	GO:005739	9.1	NIPSNAP1, ACADM, TF, ADSL, HADHA, OTC
3	extracellular region	GO:005576	7.0	HCRT, TTR, TF, TFRC, CSN1S1, ADIPOQ
4	cytosol	GO:005829	6.6	PCBD1, PTS, SPR, PPARG, G6PD, HBB

Biological processes related to phenylketonuria according to GeneDecks:

(show all 18)

id	Name	GO ID	Score	Top Affiliating Genes
1	L-phenylalanine catabolic process	GO:006559	10.4	HPD, GSTZ1, QDPR, PAH, PCBD1
2	tetrahydrobiopterin biosynthetic process	GO:006729	10.3	SPR, PTS, QDPR, GCH1, PCBD1
3	dihydrobiopterin metabolic process	GO:051066	10.3	GCH1, QDPR
4	nitric oxide metabolic process	GO:046209	10.3	SPR, PTS, GCH1
5	dopamine biosynthetic process	GO:042416	10.1	GCH1, TH, SLC6A3
6	regulation of nitric-oxide synthase activity	GO:050999	10.1	SPR, PTS, GCH1
7	oxidation-reduction process	GO:055114	10.1	G6PD, ACADM, SPR, GPX4, MTRR
8	cellular amino acid metabolic process	GO:006520	10.0	MTHFR, QDPR, PTS, SLC7A5
9	neurotransmitter biosynthetic process	GO:042136	10.0	SLC6A3, TH, ACHE, PAH
10	cellular nitrogen compound metabolic process	GO:034641	9.9	PSPH, TH, OTC, TPH1, HPD, GSTZ1
11	negative regulation of blood pressure	GO:045776	9.6	GCH1, DRD2, ADIPOQ
12	response to cocaine	GO:042220	9.4	SLC6A3, DRD2, HTR3A
13	hydrogen peroxide catabolic process	GO:042744	9.3	GPX1, CAT, HBB
14	response to ethanol	GO:045471	9.2	ADIPOQ, SLC6A3, TH, GNRH1, MAOB, BGLAP
15	response to nutrient	GO:007584	9.2	ADIPOQ, ADSL, PPARG, TNFRSF11B, HMGCL
16	response to estrogen stimulus	GO:043627	9.0	BGLAP, GHRL, TNFRSF11B, PPARG
17	response to drug	GO:042493	8.3	SLC6A3, PPARG, OTC, DRD2, TNFRSF11B, MAOB
18	small molecule metabolic process	GO:044281	5.9	HADHA, TPH1, PTS, OTC, SPR, PDP1

Molecular functions related to phenylketonuria according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	amino acid binding	GO:016597	10.3	PAH, TPH1, OTC
2	glutathione peroxidase activity	GO:004602	10.0	GSTZ1, GPX4, GPX5, GPX1
3	NADP binding	GO:050661	9.4	G6PD, SPR, CAT, MTRR
4	drug binding	GO:008144	8.1	ALB, DRD2, PPARG, SLC6A3
5	protein homodimerization activity	GO:042803	7.6	GCH1, ADIPOQ, PSPH, TYR, G6PD, ACHE