| Entry |
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| Name |
Homocystinuria
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| Description |
Homocystinuria is a metabolic disorder due to cystathionine beta-synthase deficiency leading to various malfunctions in the eyes and the central nervous, skeletal, and vascular systems.
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| Category |
Inherited metabolic disease; Nervous system disease; Cardiovascular disease
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| Pathway |
| Glycine, serine and threonine metabolism | | Cysteine and methionine metabolism | | Selenoamino acid metabolism | | One carbon pool by folate |
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| Gene |
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| Marker |
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| Drug |
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| Other DBs |
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| Reference |
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| Authors |
Kraus JP, Janosik M, Kozich V, Mandell R, Shih V, Sperandeo MP, Sebastio G, de Franchis R, Andria G, Kluijtmans LA, Blom H, Boers GH, Gordon RB, Kamoun P, Tsai MY, Kruger WD, Koch HG, Ohura T, Gaustadnes M |
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| Title |
Cystathionine beta-synthase mutations in homocystinuria. |
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| Journal |
Hum Mutat 13:362-75 (1999) |
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| Reference |
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| Authors |
Orendac M, Zeman J, Stabler SP, Allen RH, Kraus JP, Bodamer O, Stockler-Ipsiroglu S, Kvasnicka J, Kozich V |
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| Title |
Homocystinuria due to cystathionine beta-synthase deficiency: novel biochemical findings and treatment efficacy. |
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| Journal |
J Inherit Metab Dis 26:761-73 (2003) |
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| Reference |
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| Authors |
Kraus JP |
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| Title |
Biochemistry and molecular genetics of cystathionine beta-synthase deficiency. |
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| Journal |
Eur J Pediatr 157 Suppl 2:S50-3 (1998) |
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| Reference |
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| Authors |
Fowler B, Jakobs C |
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| Title |
Post- and prenatal diagnostic methods for the homocystinurias. |
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| Journal |
Eur J Pediatr 157 Suppl 2:S88-93 (1998) |
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