Adverse Drug Reaction Classification System

ADR Ontology
ADR Term Phenylketonuria
ADR ID BADD_A03410
ADR Hierarchy
03      Congenital, familial and genetic disorders
03.08      Metabolic and nutritional disorders congenital
03.08.04      Inborn errors of amino acid metabolism
03.08.04.002      Phenylketonuria
14      Metabolism and nutrition disorders
14.14      Inborn errors of metabolism
14.14.04      Inborn errors of amino acid metabolism
14.14.04.002      Phenylketonuria
17      Nervous system disorders
17.03      Mental impairment disorders
17.03.07      Intellectual disabilities
17.03.07.002      Phenylketonuria
19      Psychiatric disorders
19.21      Cognitive and attention disorders and disturbances
19.21.06      Intellectual disabilities
19.21.06.002      Phenylketonuria
20      Renal and urinary disorders
20.02      Urinary tract signs and symptoms
20.02.01      Urinary abnormalities
20.02.01.018      Phenylketonuria
Description A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952). [MeSH]
MedDRA Code 10034872
MeSH ID D010661
ADR Severity Grade (FAERS) Not Available
ADR Severity Grade (CTCAE) Not Available
Synonym
Phenylketonuria | Phenylketonuria (PKU) | Phenylketouria | Phenylpyruvic oligophrenia | PKU | Phenylketonurias | Hyperphenylalaninemia, Non-Phenylketonuric | Hyperphenylalaninemia, Non Phenylketonuric | Non-Phenylketonuric Hyperphenylalaninemias | BH4 Deficiency | Deficiency, BH4 | Non-Phenylketonuric Hyperphenylalaninemia | Non Phenylketonuric Hyperphenylalaninemia | Tetrahydrobiopterin Deficiency | Deficiency, Tetrahydrobiopterin | Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism | Phenylketonuria II | DHPR Deficiency | Deficiency, DHPR | Dihydropteridine Reductase Deficiency | Deficiency, Dihydropteridine Reductase | Dihydropteridine Reductase Deficiency Disease | HPABH4C | Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To DHPR Deficiency | Phenylketonuria, Atypical | Atypical Phenylketonuria | PKU, Atypical | Atypical PKU | QDPR Deficiency | Deficiency, QDPR | Quinoid Dihydropteridine Reductase Deficiency | Hyperphenylalaninemia, BH4-Deficient, C | Deficiency Disease, Dihydropteridine Reductase | Phenylketonuria Type 2 | Hyperphenylalaninaemia | Phenylketonuria I | Deficiency Disease, Phenylalanine Hydroxylase, Severe | Folling Disease | Disease, Folling | Folling's Disease | Disease, Folling's | Phenylketonuria, Classical | Classical Phenylketonuria | PAH Deficiency | Deficiency, PAH | Phenylalanine Hydroxylase Deficiency | Deficiency, Phenylalanine Hydroxylase | Phenylalanine Hydroxylase Deficiency Disease | Phenylalanine Hydroxylase Deficiency Disease, Severe | Deficiency Disease, Phenylalanine Hydroxylase | Oligophrenia Phenylpyruvica
Drugs Leading to the ADR
Drug IDDrug NameADR Frequency (FAERS)ADR Severity Grade (FAERS)
BADD_D00511Clozapine--
BADD_D01886Pyrimethamine--
BADD_D01951Risperidone--
BADD_D02393Zolmitriptan--
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