tetrahydrobiopterin deficiency

tetrahydrobiopterin deficiency
any of several disorders in the synthesis or regeneration of the cofactor tetrahydrobiopterin; clinical presentation is usually similar to phenylketonuria but because the cofactor also functions in the synthesis of various monoamine neurotransmitters, the disorders are not responsive to dietary phenylalanine restriction unless the missing neurotransmitters can also be supplied. Causes include mutations in the genes encoding 6,7-dihydropteridine reductase, GTP cyclohydrolase I, 6-pyruvoyltetrahydropterin synthase, and pterin 4-α-carbinolamine dehydratase. There are also several variant forms not presenting with hyperphenylalaninemia, including dopa-responsive dystonia due to defects in GTP cyclohydrolase I and in sepiapterin reductase.

Medical dictionary. 2011.

Игры ⚽ Поможем написать реферат

Look at other dictionaries:

  • Tetrahydrobiopterin deficiency — Infobox Disease Name = PAGENAME Caption = Tetrahydrobiopterin DiseasesDB = ICD10 = ICD10|E|70|1|e|70 ICD9 = ICD9|270.1 OMIM = MedlinePlus = eMedicineSubj = ped eMedicineTopic = 2226 MeshID = Tetrahydrobiopterin deficiency (also known as BH4… …   Wikipedia

  • Tetrahydrobiopterin — Systematic (IUPAC) name (6R) 2 Amino 6 [(1R,2S) 1,2 dihydroxypropyl] 5,6,7,8 tetrahydropteridin 4(1H) one Clinical data …   Wikipedia

  • tetrahydrobiopterin — tet·ra·hy·dro·bi·op·ter·in (BH4) (BH4) (tet″rə hi″dro bi opґtər in) a reduced form of dihydrobiopterin that functions as a coenzyme in the reactions hydroxylating phenylalanine, tryptophan, and tyrosine by carrying electrons …   Medical dictionary

  • Ornithine transcarbamylase deficiency — Classification and external resources Ornithine ICD 10 E …   Wikipedia

  • Glutathione synthetase deficiency — Classification and external resources Glutathione OMIM 266130 …   Wikipedia

  • Ornithine translocase deficiency — Classification and external resources Ornithine ICD 9 …   Wikipedia

  • Guanidinoacetate methyltransferase deficiency — Classification and external resources Glycocyamine OMIM 601240 …   Wikipedia

  • Dopamine beta hydroxylase deficiency — Classification and external resources Dopamine beta hydroxylase is the enzyme responsible for converting dopamine (pictured) to norepinephrine. OMIM …   Wikipedia

  • 3-Methylcrotonyl-CoA carboxylase deficiency — Classification and external resources Methylcrotonyl CoA OMIM 210200 …   Wikipedia

  • Beta-ketothiolase deficiency — Classification and external resources Isoleucine OMIM 203750 …   Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”