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GTP cyclohydrolase I deficiency(HPABH4B)

MedGen UID:
75683
Concept ID:
C0268467
Disease or Syndrome
Synonyms: GTP Cyclohydrolase 1 Deficiency (GTPCH); GTP Cyclohydrolase 1-Related Disorders
SNOMED CT: Guanosine-5-triphosphate cyclohydrolase deficiency (23447005); GTP - Guanosine-5-triphosphate cyclohydrolase deficiency (23447005); Guanosine triphosphate (GTP) cyclohydrolase I deficiency (23447005); Guanosine triphosphate cyclohydrolase I deficiency (23447005); GTP cyclohydrolase I deficiency (23447005); Hyperphenylalaninemia with neopterin deficiency (23447005)
 
Related gene: GCH1
 
Monarch Initiative: MONDO:0100184
OMIM®: 233910; 600225

Definition

Infants with tetrahydrobiopterin deficiency appear normal at birth, but medical problems ranging from mild to severe become apparent over time. Signs and symptoms of this condition can include intellectual disability, progressive problems with development, movement disorders, difficulty swallowing, seizures, behavioral problems, and an inability to control body temperature.

Tetrahydrobiopterin deficiency is a rare disorder characterized by a shortage (deficiency) of a molecule called tetrahydrobiopterin or BH4. This condition alters the levels of several substances in the body, including phenylalanine. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in foods that contain protein and in some artificial sweeteners. High levels of phenylalanine are present from early infancy in people with untreated tetrahydrobiopterin deficiency. This condition also alters the levels of chemicals called neurotransmitters, which transmit signals between nerve cells in the brain. [from MedlinePlus Genetics]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for GTP cyclohydrolase I deficiency in Orphanet.

Professional guidelines

PubMed

Niederwieser A, Ponzone A, Curtius HC
J Inherit Metab Dis 1985;8 Suppl 1:34-8. doi: 10.1007/BF01800657. PMID: 3930839

Recent clinical studies

Therapy

Segawa M
Handb Clin Neurol 2011;100:539-57. doi: 10.1016/B978-0-444-52014-2.00039-2. PMID: 21496606
Opladen T, Abu Seda B, Rassi A, Thöny B, Hoffmann GF, Blau N
J Inherit Metab Dis 2011 Jun;34(3):819-26. Epub 2011 Mar 17 doi: 10.1007/s10545-011-9300-1. PMID: 21416196
Opladen T, Hoffmann G, Hörster F, Hinz AB, Neidhardt K, Klein C, Wolf N
Mov Disord 2011 Jan;26(1):157-61. Epub 2010 Sep 3 doi: 10.1002/mds.23329. PMID: 20818608
Hoffmann GF, Assmann B, Bräutigam C, Dionisi-Vici C, Häussler M, de Klerk JB, Naumann M, Steenbergen-Spanjers GC, Strassburg HM, Wevers RA
Ann Neurol 2003;54 Suppl 6:S56-65. doi: 10.1002/ana.10632. PMID: 12891655
Niederwieser A, Blau N, Wang M, Joller P, Atarés M, Cardesa-Garcia J
Eur J Pediatr 1984 Feb;141(4):208-14. doi: 10.1007/BF00572762. PMID: 6734669

Prognosis

Jiang X, Liu H, Shao Y, Peng M, Zhang W, Li D, Li X, Cai Y, Tan T, Lu X, Xu J, Su X, Lin Y, Liu Z, Huang Y, Zeng C, Tang YP, Liu L
Metabolism 2019 May;94:96-104. Epub 2019 Feb 10 doi: 10.1016/j.metabol.2019.02.001. PMID: 30742839
Segawa M
Handb Clin Neurol 2011;100:539-57. doi: 10.1016/B978-0-444-52014-2.00039-2. PMID: 21496606
Opladen T, Hoffmann G, Hörster F, Hinz AB, Neidhardt K, Klein C, Wolf N
Mov Disord 2011 Jan;26(1):157-61. Epub 2010 Sep 3 doi: 10.1002/mds.23329. PMID: 20818608
Hjermind LE, Johannsen LG, Blau N, Wevers RA, Lucking CB, Hertz JM, Friberg L, Regeur L, Nielsen JE, Sørensen SA
Mov Disord 2006 May;21(5):679-82. doi: 10.1002/mds.20773. PMID: 16267845

Clinical prediction guides

Kim W, Cho JS, Shim YK, Ko YJ, Choi SA, Kim SY, Kim H, Lim BC, Hwang H, Choi J, Kim KJ, Kim MJ, Seong MW, Chae JH
Brain Dev 2021 Aug;43(7):759-767. Epub 2021 Apr 17 doi: 10.1016/j.braindev.2021.02.006. PMID: 33875303
Jiang X, Liu H, Shao Y, Peng M, Zhang W, Li D, Li X, Cai Y, Tan T, Lu X, Xu J, Su X, Lin Y, Liu Z, Huang Y, Zeng C, Tang YP, Liu L
Metabolism 2019 May;94:96-104. Epub 2019 Feb 10 doi: 10.1016/j.metabol.2019.02.001. PMID: 30742839
Furukawa Y, Filiano JJ, Kish SJ
Mov Disord 2004 Oct;19(10):1256-8. doi: 10.1002/mds.20194. PMID: 15389992
Hoffmann GF, Assmann B, Bräutigam C, Dionisi-Vici C, Häussler M, de Klerk JB, Naumann M, Steenbergen-Spanjers GC, Strassburg HM, Wevers RA
Ann Neurol 2003;54 Suppl 6:S56-65. doi: 10.1002/ana.10632. PMID: 12891655
Niederwieser A, Blau N, Wang M, Joller P, Atarés M, Cardesa-Garcia J
Eur J Pediatr 1984 Feb;141(4):208-14. doi: 10.1007/BF00572762. PMID: 6734669

Recent systematic reviews

Kim W, Cho JS, Shim YK, Ko YJ, Choi SA, Kim SY, Kim H, Lim BC, Hwang H, Choi J, Kim KJ, Kim MJ, Seong MW, Chae JH
Brain Dev 2021 Aug;43(7):759-767. Epub 2021 Apr 17 doi: 10.1016/j.braindev.2021.02.006. PMID: 33875303

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