x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Saccharopinuria

Disease definition

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

ORPHA:3124

  • Synonym(s):
    • Hyperlysinemia type II
    • Saccharopine dehydrogenase deficiency
  • Prevalence: Unknown
  • Inheritance: -
  • Age of onset: Infancy, Neonatal
  • ICD-10: E72.3
  • OMIM: 268700
  • UMLS: C0268556  C2936921
  • MeSH: C537218
  • GARD: 314
  • MedDRA: -

Additional information

Further information on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.