MPKU
MCID: MTR016
MIFTS: 19

Maternal Hyperphenylalaninemia (MPKU)

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Maternal Hyperphenylalaninemia

MalaCards integrated aliases for Maternal Hyperphenylalaninemia:

Name: Maternal Hyperphenylalaninemia 52
Hyperphenylalaninemic Embryopathy 52
Phenylketonuric Embryopathy 52
Phenylketonuria, Maternal 71
Maternal Phenylketonuria 52
Maternal Pku 52
Mpku 52

Classifications:



External Ids:

UMLS 71 C0085547

Summaries for Maternal Hyperphenylalaninemia

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2209 Definition A rare disorder of phenylalanine metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly , growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations. Epidemiology The incidence of maternal phenylketonuria (PKU) in Europe is estimated to be 1/10,000. Increased survival and improved health among females with treated PKU, thanks to neonatal screening , has increased the number of potential pregnancies with a risk of elevated maternal Phe. Clinical description Hyperphenylalaninemia is classified by serum phenylalanine concentrations of more than 1,200 micromol/L (classic PKU; see this term) or less than 600 micromol/L (hyperphenylalaninemia; see this term), between 600 and 1.200 micromol/L as mild PKU. Maternal phenylketonuria syndrome in offspring has been shown to result in intrauterine and postnatal growth retardation with associated low birth weight, microcephaly, and intellectual disability. Congenital heart malformation is also found and may include double-chambered right ventricle, tetralogy of Fallot, and ventricular septal defects (see these terms). In severe cases, facial dysmorphism may also occur with various features reported including receding forehead, fused eyes, strabismus , dysplastic ear helices, high palate ,underdeveloped philtrum, anteverted nostrils, broad flat nasal bridge, deviated nasal septum, micrognathia , and ptosis . Optimal maternal Phe concentrations should be strictly maintained throughout pregnancy to reduce the risk of these abnormalities. This can be achieved by minimal Phe intake, along with tyrosine-enriched supplements. Studies have also shown that dietary treatment to control Phe concentrations can prevent the disorder if started before conception. Etiology Abnormally high maternal Phe concentrations underlie the clinical effects found in children with this disorder. PKU and hyperphenylalaninemia are caused by mutations in the PAH gene (12q22-q24.2). Genetic counseling Phenylketonuria is transmitted in an autosomal recessive manner. Affected children will therefore mostly be heterozygous carriers or non-carriers of the defect. Visit the Orphanet disease page for more resources.

MalaCards based summary : Maternal Hyperphenylalaninemia, also known as hyperphenylalaninemic embryopathy, is related to phenylketonuria and hyperphenylalaninemia, and has symptoms including morning sickness The drugs Tyrosine and Phenylalanine have been mentioned in the context of this disorder. Affiliated tissues include heart, eye and brain.

Related Diseases for Maternal Hyperphenylalaninemia

Diseases related to Maternal Hyperphenylalaninemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
# Related Disease Score Top Affiliating Genes
1 phenylketonuria 11.8
2 hyperphenylalaninemia 10.7
3 microcephaly 10.3
4 mild hyperphenylalaninemia 10.3
5 alacrima, achalasia, and mental retardation syndrome 10.2
6 learning disability 10.1
7 abdominal obesity-metabolic syndrome 1 10.0
8 inherited metabolic disorder 10.0
9 heritable pulmonary arterial hypertension 10.0
10 hair whorl 10.0
11 fetal alcohol syndrome 10.0
12 alcohol-related birth defect 10.0
13 double outlet right ventricle 10.0
14 chondrodysplasia punctata syndrome 10.0
15 pierre robin syndrome 10.0
16 deficiency anemia 10.0
17 esophageal atresia 10.0
18 heart disease 10.0
19 iron deficiency anemia 10.0
20 iron metabolism disease 10.0
21 attention deficit-hyperactivity disorder 9.9
22 meckel diverticulum 9.9
23 platelet groups--ko system 9.9
24 tetralogy of fallot 9.9
25 down syndrome 9.9
26 renal hypodysplasia/aplasia 1 9.9
27 conotruncal heart malformations 9.9
28 hyperbilirubinemia, transient familial neonatal 9.9
29 exstrophy of bladder 9.9
30 branchiootic syndrome 1 9.9
31 hypogonadotropic hypogonadism 10 with or without anosmia 9.9
32 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 9.9
33 brachydactyly 9.9
34 autosomal recessive disease 9.9
35 potter's syndrome 9.9
36 amenorrhea 9.9
37 ventricular septal defect 9.9
38 astrocytoma 9.9
39 subvalvular aortic stenosis 9.9
40 neuroblastoma 9.9
41 placenta disease 9.9
42 hypoplastic left heart syndrome 9.9
43 aortopulmonary window 9.9
44 chromosomal triplication 9.9
45 hersh podruch weisskopk syndrome 9.9
46 horseshoe kidney 9.9
47 mitral atresia 9.9
48 bicornuate uterus 9.9
49 classic phenylketonuria 9.9

Graphical network of the top 20 diseases related to Maternal Hyperphenylalaninemia:



Diseases related to Maternal Hyperphenylalaninemia

Symptoms & Phenotypes for Maternal Hyperphenylalaninemia

UMLS symptoms related to Maternal Hyperphenylalaninemia:


morning sickness

Drugs & Therapeutics for Maternal Hyperphenylalaninemia

Drugs for Maternal Hyperphenylalaninemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tyrosine Approved, Investigational, Nutraceutical 60-18-4 6057
2
Phenylalanine Approved, Investigational, Nutraceutical 63-91-2 6140
3 Vitamins

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effects of Maternal Phenylketonuria (PKU) on Pregnancy Outcome Completed NCT00065299
2 An Observational Study to Evaluate Metabolic Control and Dietary Management in Women With PKU Taking PKU Sphere During Pre-conception and/or Pregnancy Recruiting NCT04224142
3 Educational, Social Support, and Nutritional Interventions and Their Cumulative Effect on Pregnancy Outcomes and Quality of Life in Teen and Adult Women With Phenylketonuria (PKU) or Maple Syrup Urine Disease (MSUD). Recruiting NCT01659749

Search NIH Clinical Center for Maternal Hyperphenylalaninemia

Genetic Tests for Maternal Hyperphenylalaninemia

Anatomical Context for Maternal Hyperphenylalaninemia

MalaCards organs/tissues related to Maternal Hyperphenylalaninemia:

40
Heart, Eye, Brain, Fetal Brain, Liver

Publications for Maternal Hyperphenylalaninemia

Articles related to Maternal Hyperphenylalaninemia:

(show all 36)
# Title Authors PMID Year
1
Management of Women With Phenylalanine Hydroxylase Deficiency (Phenylketonuria): ACOG Committee Opinion Summary, Number 802. 61
32217972 2020
2
Management of Women With Phenylalanine Hydroxylase Deficiency (Phenylketonuria): ACOG Committee Opinion, Number 802. 61
32217978 2020
3
Maternal hyperphenylalaninemia: rapid achievement of metabolic control predicts overall control throughout pregnancy. 61
23537842 2013
4
Protective effect of recombinant adeno-associated virus 2/8-mediated gene therapy from the maternal hyperphenylalaninemia in offsprings of a mouse model of phenylketonuria. 61
18955797 2008
5
Maternal hyperphenylalaninemia syndrome: neuropsychological evaluation of four subjects during childhood and adolescence. 61
17093378 2006
6
Mitochondrial damage induced by fetal hyperphenylalaninemia in the rat brain and liver: its prevention by melatonin, Vitamin E, and Vitamin C. 61
16309833 2006
7
State-of-the-art 2003 on PKU gene therapy. 61
14728985 2004
8
Maternal hyperphenylalaninemias in healthy Czech population of pregnant women: 30 years experience with screening, prevention and treatment. 61
15633889 2004
9
Oxidative stress induced by phenylketonuria in the rat: Prevention by melatonin, vitamin E, and vitamin C. 61
12210848 2002
10
[Pseudo-inherited form of left heart obstructive defects revealing maternal phenylketonuria]. 61
10858866 2000
11
The international study of pregnancy outcome in women with maternal phenylketonuria: report of a 12-year study. 61
10694332 2000
12
[An experimental study on the effects of maternal hyperphenylalaninemia on the central nervous system and behavior of offspring rats]. 61
9542220 1998
13
Microcephaly in a hyperphenylalaninemic infant leading to the diagnosis of maternal hyperphenylalaninemia. 61
8929743 1996
14
[Maternal hyperphenylalaninemia in a population of healty Czech women. 18 years' experience with mass screening, diet therapy and metabolic monitoring]. 61
8616880 1996
15
[Maternal hyperphenylalaninemia]. 61
8348644 1993
16
Maternal phenylketonuria collaborative study, obstetric aspects and outcome: the first 6 years. 61
1566767 1992
17
Effects of untreated maternal hyperphenylalaninemia on the fetus: further study of families identified by routine cord blood screening. 61
2348297 1990
18
The effects of maternal hyperphenylalaninemia on learning in mature rats. 61
3172977 1988
19
Experimental hyperphenylalaninemia in the pregnant guinea pig: possible phenylalanine teratogenesis and p-chlorophenylalanine embryotoxicity. 61
2962329 1987
20
Prevention of fetal damage through dietary control of maternal hyperphenylalaninemia. 61
3757336 1986
21
Effects of phenylalanine loading on protein synthesis in the fetal heart and brain of rat: an experimental approach to maternal phenylketonuria. 61
2941618 1986
22
Effects of hyperphenylalaninemia in the fetal stage on the postnatal development of fetal rat brain. 61
2997643 1985
23
More on untreated maternal hyperphenylalaninemia. 61
6482926 1984
24
Maternal hyperphenylalaninemia fetal effects. 61
6694013 1984
25
Effects of maternal hyperphenylalaninemia on fetal brain development: a morphological study. 61
6681776 1983
26
Effects of maternal hyperphenylalaninemia on fetal brain development: a biochemical study. 61
6186515 1983
27
Prevention of mental retardation in offspring of hyperphenylalaninemic mothers. 61
7137436 1982
28
[Maternal hyperphenylalaninemia as a cause of embryo-fetal disease. Review of literature and clinical contribution]. 61
460109 1979
29
Maternal hyperphenylalaninemia: an experimental model in rats. 61
986972 1976
30
[Maternal hyperphenylalaninemia and intrauterine damage to the CNS]. 61
4410076 1974
31
Maternal hyperphenylalaninemia induced experimentally: decreased incorporation of 14C-leucine into protein in the brain of the fetus. 61
4439402 1974
32
Experimental maternal hyperphenylalaninemia: biochemical effects and offspring development. 61
4274622 1974
33
Behavioral effects of experimental maternal hyperphenylalaninemia. 61
4272316 1973
34
Experimental maternal hyperphenylalaninemia: disaggregation of fetal brain ribosomes. 61
4269294 1973
35
Epidemiological considerations on maternal hyperphenylalaninemia. 61
5428284 1970
36
"Fetal PKU:" the effect of maternal hyperphenylalaninemia during pregnancy in the rhesus monkey (Macaca mulatta). 61
4968669 1968

Variations for Maternal Hyperphenylalaninemia

Expression for Maternal Hyperphenylalaninemia

Search GEO for disease gene expression data for Maternal Hyperphenylalaninemia.

Pathways for Maternal Hyperphenylalaninemia

GO Terms for Maternal Hyperphenylalaninemia

Sources for Maternal Hyperphenylalaninemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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