Details of Disease

General Information of Disease (ID: DISCQU4G)

Disease Name	Hyperphenylalaninemia
Synonyms	hyperphenylalaninemia; non-phenylketonuric hyperphenylalaninemia; hyperphenylalaninemia due to BH4 deficiency; hyperphenylalaninemia due to tetrahydrobiopterin deficiency
Disease Class	5C50: Metabolism inborn error
Definition	Hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4) deficiency, also known as malignant HPA is an amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine.
Disease Hierarchy	DISFWXCM: Inborn disorder of amino acid metabolism DISCPWH9: Autosomal recessive disease DISCQU4G: Hyperphenylalaninemia
ICD Code	ICD-11 ICD-11: 5C50
Disease Identifiers	MONDO ID MONDO_0016543 MESH ID D010661 UMLS CUI C0751436 MedGen ID 199656 HPO ID HP:0004923 Orphanet ID 238583 SNOMED CT ID 68724006

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Sapropterin hydrochloride	DM90TJP	Approved	Small molecular drug	[1]
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This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
CNSA-001	DMV9FLB	Phase 2	Small molecular drug	[2]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PAH	TTGSVH2	Disputed	Genetic Variation	[3]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
QDPR	OTSKOIUX	Limited	Biomarker	[4]
PTS	OTTYWQXR	Strong	Biomarker	[5]
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References

1	2007 FDA drug approvals: a year of flux. Nat Rev Drug Discov. 2008 Feb;7(2):107-9.
2	ClinicalTrials.gov (NCT03519711) A Study of CNSA-001 in Primary Tetrahydrobiopterin (BH4) Deficient Participants With Hyperphenylalaninemia. U.S. National Institutes of Health.
3	Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand.BMC Med Genet. 2017 Sep 16;18(1):102. doi: 10.1186/s12881-017-0464-x.
4	Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships. Chem Biol Interact. 2015 Jun 5;234:114-25.
5	Diagnosis, treatment and follow-up of patients with tetrahydrobiopterin deficiency in Shandong province, China.Brain Dev. 2015 Jun;37(6):592-8. doi: 10.1016/j.braindev.2014.09.008. Epub 2014 Oct 7.