Maternal hyperphenylalaninemia

General Information (adopted from Orphanet):

Synonyms, Signs: HPA, NON-PKU MILD, INCLUDED
OLIGOPHRENIA PHENYLPYRUVICA
PAH DEFICIENCY
PHENYLKETONURIA, MATERNAL, INCLUDED
FOLLING DISEASE HYPERPHENYLALANINEMIA, NON-PKU MILD, INCLUDED
PHENYLALANINE HYDROXYLASE DEFICIENCY
PKU
Maternal PKU
Maternal phenylketonuria
Phenylketonuric embryopathy
Hyperphenylalaninemic embryopathy
Number of Symptoms 36
OrphanetNr: 2209
OMIM Id: 261600
ICD-10: E70.1
P00.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 1.25 of 100 000
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of phenylalanine metabolism
 -Rare genetic disease
Maternal disease-related embryofetopathy
 -Rare developmental defect during embryogenesis
Teratogenic Pierre Robin syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
(HPO:0003355) Aminoaciduria 4025205 IBIS 65 / 7739
2
(HPO:0003110) Abnormality of urine homeostasis 4025205 IBIS 9 / 7739
3
(HPO:0000252) Microcephaly 23157991 IBIS 832 / 7739
4
(HPO:0007018) Attention deficit hyperactivity disorder 23157991 IBIS 56 / 7739
5
(HPO:0001249) Intellectual disability 22205310 IBIS 1089 / 7739
6
(HPO:0000752) Hyperactivity 24140048 IBIS 140 / 7739
7
(HPO:0000709) Psychosis 23157991 IBIS 61 / 7739
8
(HPO:0100543) Cognitive impairment 24485821 IBIS 230 / 7739
9
(HPO:0001270) Motor delay 18566668 IBIS 322 / 7739
10
(HPO:0001250) Seizures 23157991 IBIS 1245 / 7739
11
(HPO:0000716) Depression 20971365 IBIS 99 / 7739
12
(HPO:0100716) Self-injurious behavior 12955819 IBIS 43 / 7739
13
(HPO:0001347) Hyperreflexia 10067268 IBIS 363 / 7739
14
(HPO:0000729) Autistic behavior 23921282 IBIS 27 / 7739
15
(HPO:0001288) Gait disturbance 11723206 IBIS 318 / 7739
16
(HPO:0000737) Irritability 23157991 IBIS 93 / 7739
17
(HPO:0001263) Global developmental delay 18566668 IBIS 853 / 7739
18
(HPO:0000739) Anxiety 23157991 IBIS 67 / 7739
19
(HPO:0000718) Aggressive behavior 23157991 IBIS 109 / 7739
20
(HPO:0012433) Abnormal social behavior 20971365 IBIS 7 / 7739
21
(HPO:0002514) Cerebral calcification 3344778 IBIS 89 / 7739
22
(HPO:0100610) Maternal hyperphenylalaninemia 22205310 IBIS 1 / 7739
23
(HPO:0005268) Spontaneous abortion 19557660 IBIS 15 / 7739
24
(HPO:0001197) Abnormality of prenatal development or birth 22205310 IBIS 9 / 7739
25
(HPO:0001511) Intrauterine growth retardation 19557660 IBIS 358 / 7739
26
(HPO:0001010) Hypopigmentation of the skin 19788584 IBIS 46 / 7739
27
(HPO:0000964) Eczema 9888332 IBIS 81 / 7739
28
(HPO:0001047) Atopic dermatitis 19718821 IBIS 20 / 7739
29
(HPO:0007513) Generalized hypopigmentation 19788584 IBIS 12 / 7739
30
(HPO:0010948) Abnormality of the fetal cardiovascular system 19557660 IBIS 1 / 7739
31
(HPO:0004920) Phenylpyruvic acidemia 4025205 IBIS 3 / 7739
32
(HPO:0004923) Hyperphenylalaninemia 22205310 IBIS 7 / 7739
33
(HPO:0005982) Reduced phenylalanine hydroxylase activity 22205310 IBIS 2 / 7739
34
(OMIM) Defects in executive function 20971365 IBIS 2 / 7739
35
(OMIM) Increased urinary o-hydroxyphenylacetic acid, phenylpyruvic acid, phenylacetic acid and phenylacetylglutamine 4025205 IBIS 2 / 7739
36
(HPO:0012447) Abnormal myelination 23157991 IBIS 7 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism resulting from a deficiency of phenylalanine hydroxylase (PAH; 612349), an enzyme that catalyzes the hydroxylation of phenylalanine to tyrosine, the rate-limiting step in phenylalanine catabolism. If undiagnosed and ...
Diagnosis OMIM Matalon et al. (1977) reported high levels of phenylalanine hydroxylase in placenta and suggested use of placental biopsy in prenatal diagnosis.

Woo (1983) identified a DNA restriction polymorphism detected by a phenylalanine hydroxylase cDNA probe and ...

Clinical Description OMIM Early diagnosis of phenylketonuria, a cause of mental retardation, is important because it is treatable by dietary means. Features other than mental retardation in untreated patients include a 'mousy' odor; light pigmentation; peculiarities of gait, stance, and sitting ...
Genotype-Phenotype Correlations OMIM For information on genotype/phenotype correlations in PKU and non-PKU hyperphenylalaninemia, see 612349.
Molecular genetics OMIM The first PKU mutation identified in the PAH gene was a single base change (GT-to-AT) in the canonical 5-prime splice donor site of intron 12 (612349.0001). Gene transfer and expression experiments demonstrated that the splice donor site mutation ...
Population genetics OMIM PKU occurs in about 1 in 10,000 births (Steinfeld et al., 2004).

Peculiarities in the distribution of phenylketonuria have been noted. The disorder is rare in Ashkenazi Jews (Cohen et al., 1961; Centerwall and Neff, 1961). ...