loading...| Preferred Name |
Maternal hyperphenylalaninemia |
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| Synonyms |
Maternal PKU Phenylketonuric embryopathy Hyperphenylalaninemic embryopathy Maternal phenylketonuria |
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| Definitions |
Maternal hyperphenylalaninemia (HPA) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly,growth retardation, congenital heart disease, and intellectual disability in nonphenylketonuric offspringof mothers with excess phenylalanine (Phe) concentrations. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_2209 |
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| database_cross_reference |
ICD10:E70.1 OMIM:261600 UMLS:C0085547 |
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| definition |
Maternal hyperphenylalaninemia (HPA) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly,growth retardation, congenital heart disease, and intellectual disability in nonphenylketonuric offspringof mothers with excess phenylalanine (Phe) concentrations. |
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| definition_citation |
orphanet |
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| has_exact_synonym |
Maternal PKU Phenylketonuric embryopathy Hyperphenylalaninemic embryopathy Maternal phenylketonuria |
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| label |
Maternal hyperphenylalaninemia |
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| prefLabel |
Maternal hyperphenylalaninemia |
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| subClassOf |