6-Pyruvoyltetrahydropterin synthase deficiency

Top

Home > Library > Miscellaneous > Wikipedia

6-Pyruvoyltetrahydropterin synthase deficiency is an autosomal recessive disorder that causes malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency.^[1]

References

^ Thöny B, Blau N (1997). "Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes". Hum. Mutat. 10 (1): 11–20. doi:10.1002/(SICI)1098-1004(1997)10:1<11::AID-HUMU2>3.0.CO;2-P. PMID 9222755.

External links

Online 'Mendelian Inheritance in Man' (OMIM) 261640

Inborn error of amino acid metabolism (E70–E72, 270)

K→acetyl-CoA

Lysine/straight chain	Glutaric acidemia type 1 · type 2 · Hyperlysinemia · Pipecolic acidemia · Saccharopinuria

Leucine	Maple syrup urine disease · Isovaleric acidemia · 3-Methylcrotonyl-CoA carboxylase deficiency · 3-hydroxy-3-methylglutaryl-CoA lyase deficiency · 3-Methylglutaconic aciduria 1

Tryptophan	Hypertryptophanemia

G→pyruvate→citrate

Glycine

Sarcosinemia · D-Glyceric acidemia · Glutathione synthetase deficiency

Glycine→Creatine: GAMT deficiency · Glycine encephalopathy

G→glutamate→
α-ketoglutarate

Histidine	Carnosinemia · Histidinemia · Urocanic aciduria

Proline	Hyperprolinemia · Prolidase deficiency

Glutamate/glutamine	SSADHD

G→propionyl-CoA→
succinyl-CoA

Valine	Maple syrup urine disease · Hypervalinemia · Isobutyryl-CoA dehydrogenase deficiency

Isoleucine	Maple syrup urine disease · Beta-ketothiolase deficiency · 2-Methylbutyryl-CoA dehydrogenase deficiency

Methionine	Hypermethioninemia · Homocystinuria · Cystathioninuria

General BC/OA	Propionic acidemia · Methylmalonic acidemia · Methylmalonyl-CoA mutase deficiency

G→fumarate

Phenylalanine/tyrosine

Phenylketonuria	Tetrahydrobiopterin deficiency · 6-Pyruvoyltetrahydropterin synthase deficiency

Tyrosinemia	Type II tyrosinemia · Type III tyrosinemia/Hawkinsinuria · Alkaptonuria/Ochronosis · Type I tyrosinemia

Tyrosine→Melanin	Albinism: Ocular albinism (1) · Oculocutaneous albinism (Hermansky–Pudlak syndrome) · Waardenburg syndrome

Tyrosine→Norepinephrine	Dopamine beta hydroxylase deficiency · reverse: Brunner syndrome

G→oxaloacetate


Urea cycle/Hyperammonemia (arginine, aspartate)	N-Acetylglutamate synthase deficiency · Carbamoyl phosphate synthetase I deficiency · Ornithine transcarbamylase deficiency/translocase deficiency · Citrullinemia · Argininosuccinic aciduria · Argininemia

Transport/
IE of RTT

Solute carrier family: Cystinuria · Hartnup disease · Lysinuric protein intolerance · Iminoglycinuria

Fanconi syndrome: Oculocerebrorenal syndrome · Cystinosis

Other

Trimethylaminuria · 2-Hydroxyglutaric aciduria · Fumarase deficiency

M: MET

mt, k, c/g/r/p/y/i, f/h/s/l/o/e, a/u, n, m

k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon

m(A16/C10),i(k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)

Metabolic disorders of vitamins, coenzymes, and cofactors

B7 Biotin/MCD

Biotinidase deficiency · Holocarboxylase synthetase deficiency

Other B

B5 (Pantothenate kinase-associated neurodegeneration) · B12 (Methylmalonic acidemia)

Other vitamin

Familial isolated vitamin E deficiency

Nonvitamin cofactor

Tetrahydrobiopterin deficiency · Molybdenum cofactor deficiency

M: NUT

cof, enz, met

noco, nuvi, sysi/epon, met

drug(A8/11/12)

This genetic disorder article is a stub. You can help Wikipedia by expanding it.

This entry is from Wikipedia, the leading user-contributed encyclopedia. It may not have been reviewed by professional editors (see full disclaimer)

Donate to Wikimedia

Help us answer these

Acquired color deficiency with a blue-yellow deficiency?

Vitamin K deficiency causing clotting factor deficiency?

What is meant by primary deficiency and secondary deficiency. compare?

What's mineral deficiency?

Post a question - any question - to the WikiAnswers community:

Copyrights:

Cite

Wikipedia on Answers.com This article is licensed under the Creative Commons Attribution/Share-Alike License. It uses material from the Wikipedia article 6-Pyruvoyltetrahydropterin synthase deficiency. Read