6-Pyruvoyltetrahydropterin synthase deficiency

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

References

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v • d • e

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

Glutamate/glutamine	SSADHD

Proline	Hyperprolinemia - Prolidase deficiency

Histidine	Carnosinemia - Histidinemia - Urocanic aciduria


Methionine	Hypermethioninemia - Homocystinuria - Cystathioninuria

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

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

General BC/OA	Propionic acidemia - Methylmalonic acidemia


Phenylalanine/tyrosine	Phenylketonuria: Tetrahydrobiopterin deficiency - 6-Pyruvoyltetrahydropterin synthase deficiency Tyrosinemia: Type II tyrosinemia - Type III tyrosinemia/Hawkinsinuria - Alkaptonuria/Ochronosis - Type I tyrosinemia


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

Other

see also Amino acid metabolism enzymes, Urea cycle enzymes, intermediates

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