MCID: SCC002
MIFTS: 23

Saccharopinuria

Categories: Rare diseases, Metabolic diseases

Aliases & Classifications for Saccharopinuria

MalaCards integrated aliases for Saccharopinuria:

Name: Saccharopinuria 57 76 53 59 37 29 13 40 73
Saccharopine Dehydrogenase Deficiency 57 53 59 73
Alpha-Aminoadipic Semialdehyde Synthase Deficiency 57
Hyperlysinemia, Type Ii 57
Hyperlysinemia, Type I 73
Hyperlysinemia Type Ii 59

Characteristics:

Orphanet epidemiological data:

59
saccharopinuria
Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
saccharopinuria:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 268700
Orphanet 59 ORPHA3124
ICD10 via Orphanet 34 E72.3
MESH via Orphanet 45 C537218
UMLS via Orphanet 74 C0268556 C2936921
MedGen 42 C0268556
KEGG 37 H01242

Summaries for Saccharopinuria

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3124Disease definitionSaccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria.EpidemiologyThe prevalence is unknown.Clinical descriptionThe 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.EtiologyIt 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.Genetic counselingSaccharopinuria is an autosomal recessive disorder.Management and treatmentThere is no specific treatment for the disease but a low lysine diet may be beneficial in some cases.Visit the Orphanet disease page for more resources.

MalaCards based summary : Saccharopinuria, also known as saccharopine dehydrogenase deficiency, is related to hyperlysinemia, type i and cystinuria, and has symptoms including seizures An important gene associated with Saccharopinuria is AASS (Aminoadipate-Semialdehyde Synthase), and among its related pathways/superpathways is Lysine degradation. Related phenotypes are intellectual disability and spastic diplegia

OMIM : 57 Saccharopinuria, also known as hyperlysinemia type II, is an autosomal recessive metabolic condition with few, if any, clinical manifestations. Hyperlysinemia type II and hyperlysinemia type I (238700) both result from deficiency of the bifunctional enzyme AASS (605113) on chromosome 7q31. The AASS gene encodes lysine alpha-ketoglutarate reductase and saccharopine dehydrogenase, which catalyze, respectively, the sequential conversion of lysine to saccharopine and saccharopine to alpha-aminoadipic semialdehyde and glutamate (summary by Tondo et al., 2013). In hyperlysinemia type I, both enzymatic functions of AASS are defective and patients have increased serum lysine and possibly increased saccharopine; in hyperlysinemia type II, most of the first enzymatic function is retained, and patients tend to have isolated saccharopine increase (Cox, 1985; Cox et al., 1985). (268700)

Wikipedia : 76 Saccharopinuria (an excess of saccharopine in the urine), also called saccharopinemia, saccharopine... more...

Related Diseases for Saccharopinuria

Diseases related to Saccharopinuria via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hyperlysinemia, type i 11.6
2 cystinuria 10.0

Symptoms & Phenotypes for Saccharopinuria

Symptoms via clinical synopsis from OMIM:

57
Neuro:
mental retardation
spastic diplegia

Lab:
abnormal eeg
lysinuria
citrullinuria
histidinuria
saccharopinuria
more
Growth:
short stature


Clinical features from OMIM:

268700

Human phenotypes related to Saccharopinuria:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 spastic diplegia 32 HP:0001264
3 eeg abnormality 32 HP:0002353
4 histidinuria 32 HP:0002927
5 hyperlysinuria 32 HP:0003297
6 short stature 32 HP:0004322

UMLS symptoms related to Saccharopinuria:


seizures

Drugs & Therapeutics for Saccharopinuria

Search Clinical Trials , NIH Clinical Center for Saccharopinuria

Genetic Tests for Saccharopinuria

Genetic tests related to Saccharopinuria:

# Genetic test Affiliating Genes
1 Saccharopinuria 29 AASS

Anatomical Context for Saccharopinuria

Publications for Saccharopinuria

Articles related to Saccharopinuria:

# Title Authors Year
1
Hyperlysinemia with saccharopinuria due to combined lysine-ketoglutarate reductase and saccharopine dehydrogenase deficiencies presenting as cystinuria. ( 571908 )
1979
2
Enzyme studies in a patient with saccharopinuria: a defect of lysine metabolism. ( 4809305 )
1974
3
Enzyme defect in saccharopinuria. ( 4404606 )
1973
4
Saccharopinuria. ( 5018656 )
1972
5
Saccharopinuria: a new inborn error of lysine metabolism. ( 5690339 )
1968

Variations for Saccharopinuria

Expression for Saccharopinuria

Search GEO for disease gene expression data for Saccharopinuria.

Pathways for Saccharopinuria

Pathways related to Saccharopinuria according to KEGG:

37
# Name Kegg Source Accession
1 Lysine degradation hsa00310

GO Terms for Saccharopinuria

Sources for Saccharopinuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....