Orphanet Rare Disease Ontology

Last uploaded: December 4, 2024
Jump to:
Preferred Name

GTP cyclohydrolase I deficiency
Synonyms

GTPCH deficiency

Hyperphenylalaninemia due to GTP cyclohydrolase deficiency
Definitions

GTP-cyclohydrolase I deficiency, an autosomal recessive genetic disorder, is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases.
ID

http://www.orpha.net/ORDO/Orphanet_2102
alternative_term

GTPCH deficiency

Hyperphenylalaninemia due to GTP cyclohydrolase deficiency
definition

GTP-cyclohydrolase I deficiency, an autosomal recessive genetic disorder, is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases.
definition_citation

Orphanet
expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2102
has_age_of_onset

Infancy

Neonatal
has_inheritance

Autosomal recessive
hasDbXref

ICD-11:5C59.01

MeSH:C562656

ICD-10:E70.1

UMLS:C0268467

OMIM:233910
label

GTP cyclohydrolase I deficiency
notation

Clinical subtype

ORPHA:2102
part_of

http://www.orpha.net/ORDO/Orphanet_238583
prefixIRI

ORDO:Orphanet_2102
prefLabel

GTP cyclohydrolase I deficiency
present_in

Worldwide AND has_point_prevalence_range : <1 / 1 000 000

Worldwide AND has_cases/families_value : 16.0 (Case(s))
treeView

http://www.orpha.net/ORDO/Orphanet_238583
subClassOf

http://www.orpha.net/ORDO/Orphanet_557494
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display