Details of Disease

General Information of Disease (ID: DISAVNUV)

Disease Name Maternal phenylketonuria
Synonyms phenylketonuric embryopathy; maternal PKU; maternal hyperphenylalaninemia; hyperphenylalaninemic embryopathy
Definition
Maternal phenylketonuria (PKU) is 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.
Disease Hierarchy
DISCU56J: Phenylketonuria
DISAVNUV: Maternal phenylketonuria
Disease Identifiers
MONDO ID
MONDO_0016366
MESH ID
D017042
UMLS CUI
C0085547
MedGen ID
88435
Orphanet ID
2209
SNOMED CT ID
297225000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PAH TTGSVH2 Supportive Autosomal recessive [1]
G6PD TTKN8W0 moderate Biomarker [2]
HNF1A TT01M3K moderate Biomarker [3]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PAH OT6GT2K8 Supportive Autosomal recessive [1]
NEFH OTMSCW5I moderate Biomarker [4]
PSPH OTV1PVAX moderate Biomarker [5]
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References

1 Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutation. Eur J Pediatr. 1991 May;150(7):493-7. doi: 10.1007/BF01958431.
2 Glutathione metabolism enzymes in brain and liver of hyperphenylalaninemic rats and the effect of lipoic acid treatment.Metab Brain Dis. 2014 Sep;29(3):609-15. doi: 10.1007/s11011-014-9491-x. Epub 2014 Feb 2.
3 Defective insulin secretion in hepatocyte nuclear factor 1alpha-deficient mice.J Clin Invest. 1998 May 15;101(10):2215-22. doi: 10.1172/JCI2548.
4 Retarded development of neurons and oligodendroglia in rat forebrain produced by hyperphenylalaninemia results in permanent deficits in myelin despite long recovery periods.Exp Neurol. 1993 Dec;124(2):357-67. doi: 10.1006/exnr.1993.1206.
5 The effects of hyperphenylalaninemia on fetal development: a new animal model of maternal phenylketonuria.Pediatr Res. 1982 May;16(5):388-94. doi: 10.1203/00006450-198205000-00014.