252:
three histidine residues that form the metal-binding site in the substrate binding pocket: His 23,48 and 50. Residues Cys42, Glu133, and His89 are in close proximity to the binding pocket but are not binding it. These are thought to serve as proton donors and acceptors during catalysis. The cofactor bound can be either Mg2+ or Ni2+ (Protein
Database). As previously mentioned it is involved in the biosynthesis of BH4 and catalyzes the transformation of 7,8-dihydroneopterin triphosphate into 6-pyruvoyl tetrahydropterin synthase. The kinetic values for this enzyme are KM = 8.1 μM and Vmax = 120 nmol/min/mg. The structure of
37:
314:
228:
160:. Response to treatment is variable and the long-term and functional outcome is unknown. To provide a basis for improving the understanding of the epidemiology, genotype–phenotype correlation and outcome of these diseases, their impact on the quality of life of patients, and for evaluating diagnostic and therapeutic strategies a patient registry was established by the noncommercial
251:
monomers form a 12-stranded antiparallel 𝛃-barrel by tight association between the N and C terminus of 2 adjacent subunits. The active enzyme complex is formed by two trimers in a head-to-head fashion. The active site is in between the trimer-trimer interface and has 3 monomers: A, A′, B. There are
348:
Taiwanese
Chinese are more likely to get PTPS deficiency as the prevalence in Taiwanese Chinese is about 1/132,000 compared to white individuals at about 1/1,000,000. PTPS deficiency occurs most commonly in Asian countries and this makes sense because of the incidence of this disease in Taiwanese
885:
Blau N, Thony B, Cotton RGH, Hyland K. 2001. Disorders of tetrahydrobiopterin and related biogenic amines. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Vogelstein B, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill. pp
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is unique and is different than other examples of antiparallel 𝛃-barrels. It is described as being formed by "a three-fold symmetrical arrangement of subunits". A similar 𝛃-barrel formation has been discovered in
1874:
161:
2024:
380:
from the diet was not working for other forms of HPA. This was attributed to a deficiency of tetrahydrobiopterin (BH4), a cofactor for PAH. The most common form of BH4 deficiency is due to
1086:
376:”. The foundations for dietary restrictions were laid down by George Jervis and Host Bickel which is still one of the best ways to treat PKU. However, this very practice of excluding
546:"A case of 6-pyruvoyl-tetrahydropterin synthase deficiency demonstrates a more significant correlation of l-Dopa dosage with serum prolactin levels than CSF homovanillic acid levels"
196:
is an intermediate in this cycle and is needed to convert 7,8 - dihydroneopterin triphosphate to 6-Pyruvoyltetrahydryobiopterin. 6-Pyruvoyltetrahydryobiopterin is converted into BH
876:
FollingIA. 1934. Uber
Ausscheidung von Phenylbrenztraubensaure in den Harn als Stoffwechselanomalie in Verbindung mit Inbicillitat. Hoppe Seylers Z Physiol Chem 227:169.
1948:
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is a neurotransmitter which is also involved in movement. The absence of enough of this molecule causes the movement disorders in an affected individual.
372:
as the cause of a strange, musty odor from the urine of two
Norwegian children. Further research by Penrose in 1935 lead to the coining of the term, “
834:
Liu, Tze-Tze; Chiang, Szu-Hui; Wu, Sheu-Jen; Hsiao, Kwang-Jen (November 2001). "Tetrahydrobiopterin-deficient hyperphenylalaninemia in the
Chinese".
2014:
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1072:
2019:
1972:
1099:
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Parge, H.E.; Arvai, A.S.; Tainer, J.A. (1995-02-07). "Human Ckshs2 Atomic
Structure: A Role for ITS Hexameric Assembly in Cell Cycle Control".
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PTPS deficiency can usually be detected by the same screening test used for PKU, because both disorders result in elevated levels of
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810:
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Escalante-Acosta, Bruno
Alfonso; Ramos-Brizuela, Luz Maria; Vargas-Robles, Hilda; Rubio-Guerra, Alberto Francisco (2010-09-29).
1918:
811:"6-pyruvoyl-tetrahydropterin synthase deficiency | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program"
289:. This test is known as the Guthrie test and is done on babies a few days after birth. Another diagnostic method is to measure
1993:
1988:
1558:
671:"Three-dimensional structure of 6-pyruvoyl tetrahydropterin synthase, an enzyme involved in tetrahydrobiopterin biosynthesis"
58:
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This image depicts the pathway for the synthesis if tetrahydrobiopterin, a very important cofactor in the human body.
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Thöny B; Blau N (1997). "Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes".
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Ogawa, Atsushi; Kanazawa, Masaki; Takayanagi, Masaki; Kitani, Yutaka; Shintaku, Haruo; Kohno, Yoichi (2008).
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is that the formation of the latter is metal induced and reversible. The PTPS trimer is similar to a
88:, and marked diurnal fluctuation. Other reported clinical features include difficulty in swallowing,
81:
728:"Serine 19 of Human 6-Pyruvoyltetrahydropterin Synthase Is Phosphorylated by cGMP Protein Kinase II"
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990:
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Pearl PL; Taylor JL; Trzcinski S; Sokohl A (May 2007). "The pediatric neurotransmitter disorders".
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124:, and sudden death have also been reported. Patients with mild phenotypes may deteriorate if given
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To understand how the absence of this enzyme affects the body, we must look at the BH
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Scherer-Oppliger, Tanja; Leimbacher, Walter; Blau, Nenad; Thöny, Beat (1999-10-29).
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585:"Is tetrahydrobiopterin a therapeutic option in diabetic hypertensive patients?"
200:(Tetrahydrobiopterin), but since it stops at 6-Pyruvoyltetrahydrobiopterin no BH
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was discovered and it was learned that PKU causes HPA but not all HPA is PKU.
360:
deficiency is not necessarily its own disease. It shares history with PKU and
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monomer folds into a sequential four-stranded, antiparallel 𝛃-sheet. Three
113:
66:
923:
863:
761:
669:
Nar, H.; Huber, R.; Heizmann, C.W.; Thöny, B.; Bürgisser, D. (March 1994).
643:
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144:. Treatment options include substitution with neurotransmitter precursors (
30:
Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency
796:
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10.1002/(SICI)1098-1004(1997)10:1<11::AID-HUMU2>3.0.CO;2-P
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Movement disorders mentioned are caused by the inability to produce
368:, a physician studying metabolic diseases, identified an excess of
226:
162:
International
Working Group on Neurotransmitter Related Disorders
1036:
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258:
1870:
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Chinese being significantly higher than any other population.
308:
236:
Structure and function of 6-Pyruvoyltetrahydropterin
Synthase
44:
This condition is inherited in an autosomal recessive manner
418:"Orphanet: 6 pyruvoyl tetrahydropterin synthase deficiency"
132:, which can interfere with a salvage pathway through which
530:
216:
deficiency share some similar symptoms. However, since BH
53:
is an autosomal recessive disorder that causes malignant
324:
2025:
Vitamin, coenzyme, and cofactor metabolism disorders
938:
634:
Regier, Debra S; Greene, Carol L (January 5, 2017).
220:
is needed for much more than just the metabolism of
61:. It is a recessive disorder that is accompanied by
1981:
1965:
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21:
293:levels in urine and to measure neurotransmitters
65:. Commonly reported symptoms are initial truncal
1949:Pantothenate kinase-associated neurodegeneration
1168:3-hydroxy-3-methylglutaryl-CoA lyase deficiency
1042:6-pyruvoyl-tetrahydropterin synthase deficiency
1554:6-Pyruvoyltetrahydropterin synthase deficiency
51:6-Pyruvoyltetrahydropterin synthase deficiency
22:6-Pyruvoyltetrahydropterin synthase deficiency
1882:
1080:
273:and is hypothesized to serve as a tunnel for
8:
1438:2-Methylbutyryl-CoA dehydrogenase deficiency
1736:Carbamoyl phosphate synthetase I deficiency
1173:3-Methylcrotonyl-CoA carboxylase deficiency
898:"Genetics of Phenylketonuria: Then and Now"
1889:
1875:
1867:
1697:
1541:
1528:
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18:
913:
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243:is a hexamer of identical subunits. The
1415:Isobutyryl-CoA dehydrogenase deficiency
409:
1973:Familial isolated vitamin E deficiency
636:"Phenylalanine Hydroxylase Deficiency"
1932:Holocarboxylase synthetase deficiency
1751:Ornithine transcarbamylase deficiency
1746:N-Acetylglutamate synthase deficiency
638:. University of Washington, Seattle.
7:
1668:Dopamine beta hydroxylase deficiency
664:
662:
660:
224:, there are other symptoms as well.
1504:Methylmalonyl-CoA mutase deficiency
398:6-pyruvoyltetrahydropterin synthase
687:10.1002/j.1460-2075.1994.tb06377.x
212:. This is the reason that PKU and
14:
1256:Glutathione synthetase deficiency
589:Integrated Blood Pressure Control
312:
2015:Amino acid metabolism disorders
732:Journal of Biological Chemistry
1994:Molybdenum cofactor deficiency
1989:Tetrahydrobiopterin deficiency
1559:Tetrahydrobiopterin deficiency
562:10.1016/j.braindev.2007.05.011
59:tetrahydrobiopterin deficiency
1:
2020:Autosomal recessive disorders
1804:Lysinuric protein intolerance
1178:3-Methylglutaconic aciduria 1
896:Blau, Nenad (February 2016).
848:10.1016/s0009-8981(01)00669-6
275:dihydroneopterin triphosphate
1443:Beta-ketothiolase deficiency
154:monoamine oxidase inhibitors
1846:Ethylmalonic encephalopathy
2041:
1836:2-Hydroxyglutaric aciduria
1815:Oculocerebrorenal syndrome
208:affects the metabolism of
204:is made. The absence of BH
69:, subsequent appendicular
1841:Aminoacylase 1 deficiency
1731:Argininosuccinic aciduria
1640:Hermansky–Pudlak syndrome
1448:Maple syrup urine disease
1420:Maple syrup urine disease
1188:Maple syrup urine disease
815:rarediseases.info.nih.gov
556:(1). Elsevier BV: 82–85.
295:5-hydroxyindolacetic acid
261:, the difference between
43:
34:
1130:Glutaric acidemia type 1
745:10.1074/jbc.274.44.31341
501:10.1177/0883073807302619
1636:Oculocutaneous albinism
142:dihydrofolate reductase
1956:Methylmalonic acidemia
1927:Biotinidase deficiency
1755:translocase deficiency
1499:Methylmalonic acidemia
1281:Glycine encephalopathy
321:This section is empty.
232:
1785:Solute carrier family
1100:amino acid metabolism
550:Brain and Development
362:hyperphenylalaninemia
230:
63:hyperphenylalaninemia
55:hyperphenylalaninemia
1646:Waardenburg syndrome
1596:Tyrosinemia type III
1351:Prolidase deficiency
836:Clinica Chimica Acta
1982:Nonvitamin cofactor
1898:Metabolic disorders
1851:Fumarase deficiency
1591:Tyrosinemia type II
1251:D-Glyceric acidemia
1206:Hypertryptophanemia
1183:Isovaleric acidemia
789:10.2210/pdb1cks/pdb
738:(44): 31341–31348.
192:synthesis pathway.
158:tetrahydrobiopterin
150:5-hydroxytryptophan
138:tetrahydrobiopterin
1586:Tyrosinemia type I
1509:Propionic acidemia
1476:Hypermethioninemia
1145:Pipecolic acidemia
1028:External resources
915:10.1002/humu.22980
602:10.2147/ibpc.s7479
233:
136:is converted into
126:folate antagonists
2002:
2001:
1904:, coenzymes, and
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1856:Trimethylaminuria
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299:homovanillic acid
90:oculogyric crises
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16:Medical condition
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675:The EMBO Journal
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134:dihydrobiopterin
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1799:Iminoglycinuria
1794:Hartnup disease
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1626:Ocular albinism
1604:
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1546:Phenylketonuria
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1424:
1391:
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1346:Hyperprolinemia
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1276:GAMT deficiency
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1123:/straight chain
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1471:Homocystinuria
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943:Classification
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902:Human Mutation
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488:J Child Neurol
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1741:Citrullinemia
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1323:Histidinemia
1318:Carnosinemia
1261:Sarcosinemia
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344:Epidemiology
329:
325:adding to it
320:
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187:
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168:Presentation
130:methotrexate
120:, rash with
102:hyperthermia
98:irritability
75:bradykinesia
50:
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1726:Argininemia
1569:Tyrosinemia
384:. Later on
27:Other names
2009:Categories
1820:Cystinosis
1789:Cystinuria
1702:Urea cycle
1581:Ochronosis
1458:Methionine
1430:Isoleucine
1198:Tryptophan
1112:acetyl-CoA
886:1725–1776.
820:2018-12-09
595:: 125–32.
444:Hum. Mutat
404:References
94:somnolence
71:hypertonia
1906:cofactors
1777:IE of RTT
1772:Transport
1716:aspartate
1672:reverse:
1365:glutamine
1361:Glutamate
1310:Histidine
1296:glutamate
856:0009-8981
754:0021-9258
695:0261-4189
570:0387-7604
305:Treatment
291:Pteridine
281:Diagnosis
184:Mechanism
114:athetosis
67:hypotonia
1902:vitamins
1711:arginine
1656:Tyrosine
1622:Albinism
1610:Tyrosine
1537:tyrosine
1524:fumarate
1485:General
1272:Creatine
1230:pyruvate
1048:Orphanet
924:26919687
864:11694255
762:10531334
644:20301677
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517:10689202
509:17690069
392:See also
364:(HPA) .
332:May 2023
178:Dopamine
164:(iNTD).
146:levodopa
128:such as
106:seizures
86:dystonia
82:rigidity
79:cogwheel
1941:Other B
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1338:Proline
1268:Glycine
1243:Glycine
1234:citrate
1160:Leucine
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1829:Other
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981:E70.1
513:S2CID
468:S2CID
271:porin
1947:B5 (
1037:GARD
1013:MeSH
1002:OMIM
991:9-CM
920:PMID
860:PMID
852:ISSN
793:PMID
758:PMID
750:ISSN
709:PMID
691:ISSN
651:2023
640:PMID
617:PMID
566:ISSN
505:PMID
460:PMID
429:2019
386:PTPS
382:PTPS
358:PTPS
267:CKS2
265:and
263:PTPS
259:CKS2
254:PTPS
249:PTPS
245:PTPS
241:PTPS
214:PTPS
194:PTPS
140:via
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1900:of
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