Maternal Phenylalanine Hydroxylase Deficiency Disease

A condition occurring in untreated or partially treated females with PHENYLKETONURIA when they become pregnant. This may result in damages to the FETUS, including MICROCEPHALY; MENTAL RETARDATION; congenital heart disease; FETAL GROWTH RETARDATION; and CRANIOFACIAL ABNORMALITIES. (From Am J Med Genet 1997 Mar 3;69(1):89-95)

Synonym
Maternal Phenylketonuria
Maternal Phenylalanine Hydroxylase Deficiency Disease
PKU, Maternal
Phenylketonuria, Maternal
Phenylalanine-Hydroxylase Deficiency Disease, Maternal
Pregnancy in Phenylketonuria

Excerpt	Reference
"For finding whether the maternal PKU syndrome could be prevented, an international collaborative study was organized to evaluate treatment with a Phe-restricted diet."	( Acosta, PB; Azen, C; Matalon, KM, 2003)
"Because blood Phe levels in maternal PKU should be maintained at 120 to 360 micromol/L, clinical relevance may be even greater than for treatment of children with PKU/HPA."	( Blau, N; Trefz, FK, 2003)
"Untreated maternal phenylketonuria or hyperphenylalaninemia may result in nonphenylketonuric offspring with neonatal sequelae, especially intellectual disability, microcephaly, and congenital heart disease (CHD)."	( Duvekot, JJ; Hop, WC; Prick, BW, 2012)
"As of June 3, 2013, the Maternal Phenylketonuria Observational Program (PKU MOMS) sub-registry contained data from 21 pregnancies - in women with PKU who were treated with sapropterin either before (N=5) or during (N=16) pregnancy."	( Burton, BK; Cohen-Pfeffer, JL; Fong, CT; Grange, DK; Hillman, RE; Hunt, J; Mahoney, JJ; Vockley, J; Yano, S, 2014)

Timeframe	Studies, This Condition (%)	All Conditions %
pre-1990	0 (0.00)	23.3326
1990's	25 (27.78)	12.5806
2000's	35 (38.89)	18.1394
2010's	17 (18.89)	28.8240
2020's	13 (14.44)	9.53

Drug	Relationship Strength	Studies	Trials
phenethylamine	low	1	0
pyridoxine	low	1	0
toluene	low	1	0
fenclonine	low	1	0
thymidine	low	1	0
tyrosine	low	4	0
phenylalanine	medium	82	3
tretinoin	low	1	0
arachidonic acid	low	1	0
selenium	low	1	0
i(3)so3-galactosylceramide	low	1	0
vitamin b 12	low	1	0
sapropterin	low	12	0
folic acid	low	2	0

Protein Targets (306)

Protein	Potency Measurements	Inhibition Measurements	Activation Measurements	Drugs
Chain A, ADIPOCYTE LIPID-BINDING PROTEIN	0	0	1	1
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE	3	0	0	3
Chain A, SERUM ALBUMIN	0	0	1	1
Chain A, SERUM ALBUMIN	0	0	1	1
Chain A, TYROSYL-DNA PHOSPHODIESTERASE	2	0	0	2
Chain A, Beta-lactamase	2	0	0	2
Chain A, HADH2 protein	3	0	0	3
Chain B, HADH2 protein	3	0	0	3
Chain A, 2-oxoglutarate Oxygenase	4	0	0	4
Chain A, ATP-DEPENDENT DNA HELICASE Q1	2	0	0	2
Chain A, Cruzipain	2	0	0	2
15-lipoxygenase, partial	1	0	0	1
phosphopantetheinyl transferase	2	0	0	2
USP1 protein, partial	3	0	0	3
TDP1 protein	2	0	0	2
Microtubule-associated protein tau	2	0	0	2
thioredoxin glutathione reductase	2	0	0	2
aldehyde dehydrogenase 1 family, member A1	4	0	0	4
euchromatic histone-lysine N-methyltransferase 2	3	0	0	3
heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	1	0	0	1
Bloom syndrome protein isoform 1	3	0	0	3
cellular tumor antigen p53 isoform a	1	0	0	1
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 1	3	0	0	3
vitamin D3 receptor isoform VDRA	2	0	0	2
ubiquitin carboxyl-terminal hydrolase 2 isoform a	1	0	0	1
nuclear receptor ROR-gamma isoform 1	2	0	0	2
lethal(3)malignant brain tumor-like protein 1 isoform I	1	0	0	1
DNA polymerase kappa isoform 1	2	0	0	2
cytochrome P450 3A4 isoform 1	2	0	0	2
histone acetyltransferase KAT2A isoform 1	2	0	0	2
DNA dC->dU-editing enzyme APOBEC-3G isoform 1	1	0	0	1
caspase-1 isoform alpha precursor	1	0	0	1
lamin isoform A-delta10	2	0	0	2
Fatty-acid amide hydrolase 1	0	1	0	1
Gamma-aminobutyric acid receptor subunit pi	2	0	0	2
Polyunsaturated fatty acid lipoxygenase ALOX15B	1	0	0	1
Prostaglandin G/H synthase 1	0	0	0	1
Trypsin	0	1	0	1
Coagulation factor VII	0	1	0	1
60 kDa chaperonin	0	2	0	2
60 kDa heat shock protein, mitochondrial	0	2	0	2
Aromatase	0	1	0	1
Tissue factor	0	1	0	1
Fatty acid-binding protein, adipocyte	0	1	1	2
Gamma-aminobutyric acid receptor subunit beta-1	2	0	0	2
Gamma-aminobutyric acid receptor subunit delta	2	0	0	2
Gamma-aminobutyric acid receptor subunit gamma-2	2	0	0	2
Gamma-aminobutyric acid receptor subunit alpha-5	2	0	0	2
Gamma-aminobutyric acid receptor subunit alpha-3	2	0	0	2
Gamma-aminobutyric acid receptor subunit gamma-1	2	0	0	2
Gamma-aminobutyric acid receptor subunit alpha-2	2	0	0	2
Gamma-aminobutyric acid receptor subunit alpha-4	2	0	0	2
Gamma-aminobutyric acid receptor subunit gamma-3	2	0	0	2
Gamma-aminobutyric acid receptor subunit alpha-6	2	0	0	2
Prostaglandin G/H synthase 2	0	0	1	2
Nuclear receptor subfamily 4 group A member 2	0	0	1	1
Histamine H2 receptor	1	0	0	1
10 kDa heat shock protein, mitochondrial	0	2	0	2
Calmodulin	0	0	0	1
Gamma-aminobutyric acid receptor subunit alpha-1	2	0	0	2
Gamma-aminobutyric acid receptor subunit beta-3	2	0	0	2
Gamma-aminobutyric acid receptor subunit beta-2	2	0	0	2
Disintegrin and metalloproteinase domain-containing protein 17	1	0	0	1
Prostaglandin G/H synthase 2	0	0	0	1
Solute carrier organic anion transporter family member 2A1	0	0	0	1
Fatty acid-binding protein 5	0	1	0	1
Fatty acid-binding protein 5	0	0	1	1
Thiosulfate sulfurtransferase	0	2	0	2
Lanosterol 14-alpha demethylase	0	1	0	1
60 kDa chaperonin	0	2	0	2
10 kDa chaperonin	0	2	0	2
GABA theta subunit	2	0	0	2
Gamma-aminobutyric acid receptor subunit epsilon	2	0	0	2
Solute carrier organic anion transporter family member 1B3	0	2	0	2
Cytosolic phospholipase A2 gamma	0	1	0	1
Transient receptor potential cation channel subfamily V member 2	0	1	0	1
Solute carrier organic anion transporter family member 1B1	0	2	0	2
endonuclease IV	1	0	0	1
thioredoxin reductase	2	0	0	2
GLS protein	2	0	0	2
arylsulfatase A	1	0	0	1
peripheral myelin protein 22 isoform 1	1	0	0	1
chromobox protein homolog 1	3	0	0	3
potassium voltage-gated channel subfamily H member 2 isoform d	1	0	0	1
flap endonuclease 1	1	0	0	1
Chain A, Dihydrofolate reductase	0	0	1	1
Chain A, Putative fructose-1,6-bisphosphate aldolase	1	0	0	1
Chain A, Ferritin light chain	2	0	0	2
acid sphingomyelinase	1	0	0	1
glp-1 receptor, partial	1	0	0	1
GLI family zinc finger 3	2	0	0	2
AR protein	4	0	0	4
thyroid stimulating hormone receptor	2	0	0	2
retinoid X nuclear receptor alpha	2	0	0	2
estrogen-related nuclear receptor alpha	3	0	0	3
estrogen nuclear receptor alpha	4	0	0	4
glucocerebrosidase	1	0	0	1
vitamin D (1,25- dihydroxyvitamin D3) receptor	2	0	0	2
alpha-galactosidase	1	0	0	1
activating transcription factor 6	3	0	0	3
lysosomal alpha-glucosidase preproprotein	1	0	0	1
nuclear factor erythroid 2-related factor 2 isoform 2	2	0	0	2
DNA polymerase beta	1	0	0	1
Multidrug resistance-associated protein 4	0	1	0	2
Bile salt export pump	0	3	0	3
Cellular tumor antigen p53	2	0	0	2
Thymidylate synthase	0	2	0	2
Thymidylate synthase	0	1	0	2
Dihydrofolate reductase	0	0	1	1
Aldo-keto reductase family 1 member B1	0	1	0	1
Alpha-synuclein	1	1	0	2
Folylpolyglutamate synthase, mitochondrial	0	0	0	1
Solute carrier organic anion transporter family member 1A3	0	1	0	1
Folylpolyglutamate synthase, mitochondrial	0	0	0	1
Multidrug resistance associated protein	0	0	0	1
Chain A, TRYPSIN	0	1	0	1
Chain A, TRYPSIN	0	1	0	1
Chain A, TRYPSIN	0	1	0	1
Chain A, TRYPSIN	0	1	0	1
Chain A, TRYPSIN	0	1	0	1
Chain A, TRYPSIN	0	1	0	1
survival motor neuron protein isoform d	2	0	0	2
Flavodoxin	0	0	0	1
Membrane primary amine oxidase	0	0	0	1
Cationic trypsin	0	1	0	1
5-hydroxytryptamine receptor 2C	0	0	1	1
Phenylethanolamine N-methyltransferase	0	1	0	1
Cytochrome P450 2A6	0	1	0	1
5-hydroxytryptamine receptor 2A	0	1	1	2
5-hydroxytryptamine receptor 1A	0	1	1	2
Cytochrome P450 2A5	0	1	0	1
Amine oxidase [flavin-containing] A	0	0	0	1
5-hydroxytryptamine receptor 2A	0	1	0	1
5-hydroxytryptamine receptor 1B	0	0	1	1
5-hydroxytryptamine receptor 1D	0	0	1	1
5-hydroxytryptamine receptor 1F	0	0	1	1
5-hydroxytryptamine receptor 2B	0	0	1	1
5-hydroxytryptamine receptor 6	0	0	1	1
5-hydroxytryptamine receptor 7	0	0	1	1
5-hydroxytryptamine receptor 5A	0	0	1	1
5-hydroxytryptamine receptor 5B	0	0	1	1
5-hydroxytryptamine receptor 3A	0	0	1	1
Amine oxidase [flavin-containing] B	0	0	0	1
Sodium-dependent dopamine transporter	0	0	1	1
Membrane primary amine oxidase	0	0	0	1
Sigma non-opioid intracellular receptor 1	0	1	0	1
5-hydroxytryptamine receptor 4	0	0	1	1
Trace amine-associated receptor 1	0	0	1	1
Trace amine-associated receptor 1	0	0	1	1
Trace amine-associated receptor 1	0	0	1	1
5-hydroxytryptamine receptor 3B	0	0	1	1
Sigma non-opioid intracellular receptor 1	0	0	1	1
Lysyl oxidase homolog 2	0	1	0	1
Chain A, AMINOPEPTIDASE	0	1	0	1
Chain A, AMINOPEPTIDASE	0	1	0	1
Luciferase	2	0	0	2
glucocorticoid receptor [Homo sapiens]	3	0	0	3
thyroid hormone receptor beta isoform a	3	0	0	3
nuclear factor erythroid 2-related factor 2 isoform 1	2	0	0	2
peripheral myelin protein 22	4	0	0	4
Voltage-dependent calcium channel subunit alpha-2/delta-1	0	1	0	1
Carbonic anhydrase 12	0	0	0	2
Carbonic anhydrase 1	0	0	0	2
Carbonic anhydrase 2	0	0	0	2
Plasma kallikrein	0	0	0	2
Alkaline phosphatase, tissue-nonspecific isozyme	0	1	0	1
Carbonic anhydrase 3	0	0	0	2
Alkaline phosphatase, tissue-nonspecific isozyme	0	1	0	1
Intestinal-type alkaline phosphatase	0	1	0	1
Intestinal-type alkaline phosphatase	0	1	0	1
5'-nucleotidase	0	1	0	1
Carbonic anhydrase 4	0	0	0	2
Carbonic anhydrase 6	0	0	0	2
Adenosine receptor A1	0	0	0	2
Adenosine receptor A2a	0	0	0	2
Carbonic anhydrase 5A, mitochondrial	0	0	0	2
Glutamate receptor ionotropic, NMDA 1	0	0	0	2
Carbonic anhydrase	0	0	0	2
Carbonic anhydrase 7	0	0	0	2
Carbonic anhydrase	0	0	0	2
E3 ubiquitin-protein ligase XIAP	0	1	0	1
Glutamate receptor ionotropic, NMDA 2A	0	0	0	2
Glutamate receptor ionotropic, NMDA 2B	0	0	0	2
Glutamate receptor ionotropic, NMDA 2C	0	0	0	2
Large neutral amino acids transporter small subunit 1	0	2	0	3
SLC16A10 protein	0	0	0	2
Carbonic anhydrase 9	0	0	0	2
Carbonic anhydrase	0	0	0	2
Carbonic anhydrase-like protein, putative	0	0	0	2
Carbonic anhydrase	0	0	0	2
Carbonic anhydrase	0	0	0	2
Glutamate receptor ionotropic, NMDA 2D	0	0	0	2
Large neutral amino acids transporter small subunit 1	0	1	0	1
Carbonic anhydrase	0	0	0	2
Carbonic anhydrase 13	0	0	0	1
Glutamate receptor ionotropic, NMDA 3B	0	0	0	2
Monocarboxylate transporter 10	0	0	0	2
Carbonic anhydrase 15	0	0	0	2
Carbonic anhydrase 13	0	0	0	1
Glutamate receptor ionotropic, NMDA 3A	0	0	0	2
Carbonic anhydrase 14	0	0	0	2
Phospholipase A-2-activating protein	0	1	0	1
Carbonic anhydrase 5B, mitochondrial	0	0	0	2
Pyridoxal kinase	0	0	0	1
Bile salt export pump	0	1	0	1
Nitric oxide synthase, brain	0	0	1	1
Spike glycoprotein	1	0	0	1
Thymidine kinase	0	1	0	2
Thymidine kinase, cytosolic	0	2	0	4
Thymidine kinase	0	1	0	2
Thymidine phosphorylase	0	0	0	1
Polyunsaturated fatty acid 5-lipoxygenase	0	1	0	1
Glucose-6-phosphate 1-dehydrogenase	0	1	0	1
Thymidine phosphorylase	0	0	0	1
Thymidylate kinase	0	1	0	1
Thymidine kinase, cytosolic	0	0	0	2
Thymidine kinase	0	0	0	1
Thymidylate kinase	0	1	0	1
Thymidine kinase	0	1	0	2
Sterol O-acyltransferase 1	0	1	0	1
Thymidine kinase	0	0	0	1
Thymidine kinase	0	0	0	1
polyunsaturated fatty acid lipoxygenase ALOX12	1	0	0	1
lethal factor (plasmid)	1	0	0	1
Endolysin	0	0	1	1
Acetylcholinesterase	0	1	0	1
Chain A, Nuclear Receptor ROR-beta	0	1	0	1
pregnane X receptor	1	0	0	1
hypoxia-inducible factor 1 alpha subunit	1	0	0	1
RAR-related orphan receptor gamma	1	0	0	1
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	1	0	0	1
estrogen receptor 2 (ER beta)	1	0	0	1
nuclear receptor subfamily 1, group I, member 3	1	0	0	1
regulator of G-protein signaling 4	1	0	0	1
cytochrome P450 family 3 subfamily A polypeptide 4	1	0	0	1
nonstructural protein 1	1	0	0	1
retinoic acid nuclear receptor alpha variant 1	1	0	0	1
farnesoid X nuclear receptor	1	0	0	1
pregnane X nuclear receptor	1	0	0	1
G	1	0	0	1
Parkin	1	0	0	1
bromodomain adjacent to zinc finger domain 2B	1	0	0	1
peroxisome proliferator-activated receptor delta	1	0	0	1
peroxisome proliferator activated receptor gamma	1	0	0	1
aryl hydrocarbon receptor	1	0	0	1
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a	1	0	0	1
thyroid stimulating hormone receptor	1	0	0	1
thyrotropin-releasing hormone receptor	1	0	0	1
Caspase-7	1	0	0	1
caspase-3	1	0	0	1
thyroid hormone receptor beta isoform 2	1	0	0	1
heat shock protein beta-1	1	0	0	1
geminin	1	0	0	1
M-phase phosphoprotein 8	1	0	0	1
ATP-binding cassette sub-family C member 3	0	1	0	1
Voltage-dependent calcium channel gamma-2 subunit	1	0	0	1
Ornithine decarboxylase	0	0	0	1
Interferon beta	1	0	0	1
HLA class I histocompatibility antigen, B alpha chain	1	0	0	1
Amyloid-beta precursor protein	0	1	0	1
Cytochrome P450 1A2	0	0	1	1
Cytochrome P450 3A4	0	0	1	1
Ornithine decarboxylase	0	0	0	1
Adenosine receptor A3	0	2	0	2
Retinoic acid receptor alpha	0	2	2	7
Cytochrome P450 2D6	0	0	1	1
Retinoic acid receptor beta	0	2	2	7
Retinoic acid receptor alpha	0	1	2	3
Cytochrome P450 2C9	0	0	1	1
Retinoic acid receptor gamma	0	2	2	7
Alpha-1B adrenergic receptor	0	2	0	2
Alpha-1A adrenergic receptor	0	1	0	1
Retinoic acid receptor gamma	0	1	2	3
Glutamate receptor 2	1	0	0	1
Retinoic acid receptor RXR-alpha	0	2	2	4
Retinoic acid receptor beta	0	1	2	3
Cellular retinoic acid-binding protein 2	0	0	1	1
Alpha-1D adrenergic receptor	0	1	0	1
Mitogen-activated protein kinase 1	0	1	0	1
Retinoic acid receptor RXR-alpha	0	1	2	3
Retinoic acid receptor RXR-beta	0	2	2	4
Retinoic acid receptor RXR-beta	0	1	2	3
Retinoic acid receptor RXR-gamma	0	1	2	3
Indoleamine 2,3-dioxygenase 1	0	1	0	1
Cytochrome P450 2C19	0	0	1	1
Nuclear receptor ROR-alpha	0	1	0	1
Cellular retinoic acid-binding protein 1	0	1	0	2
5-hydroxytryptamine receptor 2B	0	2	0	2
Alpha-1A adrenergic receptor	0	2	0	2
Retinoic acid receptor RXR-gamma	0	2	2	4
Nuclear receptor ROR-gamma	0	1	1	2
Cellular retinoic acid-binding protein 1	0	0	1	1
Peptidyl-prolyl cis-trans isomerase NIMA-interacting 1	0	2	1	3
Indoleamine 2,3-dioxygenase 2	0	1	0	1
Inositol hexakisphosphate kinase 1	1	0	0	1
Nuclear receptor ROR-beta	0	1	0	1
Canalicular multispecific organic anion transporter 1	0	1	0	1
ATPase family AAA domain-containing protein 5	1	0	0	1
Ataxin-2	1	0	0	1
cytochrome P450 2C9, partial	1	0	0	1
ATP-dependent phosphofructokinase	1	0	0	1
Chain A, CHORISMATE MUTASE	0	1	0	1
Chain A, TYROSYL-tRNA SYNTHETASE	0	0	1	1
Polyphenol oxidase 2	0	0	0	1
Tubulin--tyrosine ligase	0	1	0	1
Taste receptor type 2 member 14	0	0	0	1
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]

Maternal Phenylalanine Hydroxylase Deficiency Disease

Synonyms(6)

Research Excerpts

Treatment

Research

Studies (90)

Protein Targets (306)

Maternal Phenylalanine Hydroxylase Deficiency Disease

Synonyms(6)

Research Excerpts

Treatment

Research

Studies (90)

Drugs Studied (16)

Protein Targets (306)