Saccharopinuria

Definicija

Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria.

Pretraga

Pun naziv

Saccharopinuria

Kratki naziv

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Sinonimi

Saccharopine dehydrogenase deficiency_x000D_Hyperlysinemia type II

Orpha broj

3124

Kategorija

Podkategorija

Naziv na stranom jeziku

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Prevalenca

Nepoznato

Nasleđivanje

-

Period početka bolesti

-

ICD 10

E72.3

OMIM

268700

UMLS

C0268556  C2936921

GARD

314

MEDDRA

NULL
Tekstualni opis
The few patients with saccharopinuria have been investigated largely because of neurological problems including spastic diplegia but the relationship between the saccharopinuria and these is unclear.
Etiologija
It is caused by a deficiency in the bifunctional enzyme alpha-aminoadipate semialdehyde synthase, encoded by the AASS gene (located at 7q31.3). This enzyme has both lysine-ketoglutarate reductase (LKR) and saccharopine dehydrogenase (SDH) activity, and catalyses the first two steps of lysine degradation. In saccharopinuria, deficiency of the LKR activity is only partial.
Prognoza
bolest_prognoza
Diferencijalna dijagnoza
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Tretman
There is no specific treatment for the disease but a low lysine diet may be beneficial in some cases.
Dijagnostičke metode
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Antenatalna dijagnoza
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Epidemiologija
The prevalence is unknown.
Genetsko savetovanje
Saccharopinuria is an autosomal recessive disorder.
Terapija
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Klinička istraživanja
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