MCID: SCC002
MIFTS: 25

Saccharopinuria

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Saccharopinuria

MalaCards integrated aliases for Saccharopinuria:

Name: Saccharopinuria 57 73 20 58 36 29 13 6 39 70
Saccharopine Dehydrogenase Deficiency 57 20 58 70
Alpha-Aminoadipic Semialdehyde Synthase Deficiency 57
Hyperlysinemia, Type Ii 57
Hyperlysinemia, Type I 70
Hyperlysinemia Type Ii 58

Characteristics:

Orphanet epidemiological data:

58
saccharopinuria
Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
saccharopinuria:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

OMIM® 57 268700
KEGG 36 H01242
MESH via Orphanet 45 C537218
ICD10 via Orphanet 33 E72.3
UMLS via Orphanet 71 C0268556 C2936921
Orphanet 58 ORPHA3124
MedGen 41 C0268556
UMLS 70 C0268556 C0543533 C2936921

Summaries for Saccharopinuria

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3124 Definition Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria. Epidemiology The prevalence is unknown. Clinical description 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. Etiology 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. Genetic counseling Saccharopinuria is an autosomal recessive disorder. Management and treatment There is no specific treatment for the disease but a low lysine diet may be beneficial in some cases.

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. Affiliated tissues include liver, and related phenotypes are intellectual disability and eeg abnormality

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., 1986). (268700) (Updated 05-Apr-2021)

KEGG : 36 Saccharopinuria is a metabolic disorder caused by a defect in a bifunctional protein with lysine-ketoglutarate reductase (LKR) activity and saccharopine dehydrogenase (SDH) activity, aminoadipic semialdehyde synthase (AASS), which catalyzes the first two steps in the lysine-degradation pathway. Patients with this disorder have both hyperlysinemia and saccharopinuria, although the saccharopinuria is much more severe. It seems likely that this disorder results from specific mutations in the portion of AASS encoding SDH, which could explain the high levels of saccharopine, compared with that in patients with hyperlysinemia [DS:H00188].

Wikipedia : 73 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 11.4
2 cystinuria 9.9

Symptoms & Phenotypes for Saccharopinuria

Human phenotypes related to Saccharopinuria:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 eeg abnormality 31 HP:0002353
3 short stature 31 HP:0004322
4 spastic diplegia 31 HP:0001264
5 histidinuria 31 HP:0002927
6 hyperlysinuria 31 HP:0003297
7 citrullinuria 31 HP:0032397

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth:
short stature

Lab:
histidinuria
citrullinuria
abnormal eeg
lysinuria
saccharopinuria
more
Neuro:
spastic diplegia
mental retardation

Clinical features from OMIM®:

268700 (Updated 05-Apr-2021)

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

Anatomical Context for Saccharopinuria

MalaCards organs/tissues related to Saccharopinuria:

40
Liver

Publications for Saccharopinuria

Articles related to Saccharopinuria:

(show all 20)
# Title Authors PMID Year
1
Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia. 57 61
10775527 2000
2
Hyperlysinemia with saccharopinuria due to combined lysine-ketoglutarate reductase and saccharopine dehydrogenase deficiencies presenting as cystinuria. 57 61
571908 1979
3
Enzyme defect in saccharopinuria. 57 61
4404606 1973
4
Saccharopinuria. 57 61
5018656 1972
5
Saccharopinuria: a new inborn error of lysine metabolism. 57 61
5690339 1968
6
Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency. 57
23890588 2013
7
Familial hyperlysinemias--multiple enzyme deficiencies associated with the bifunctional aminoadipic semialdehyde synthase. 57
3939388 1986
8
Multiple enzyme defects in familial hyperlysinemia. 57
934735 1976
9
Saccharopine cleavage by a dehydrogenase of human liver. 57
4393051 1970
10
The lysine catabolite saccharopine impairs development by disrupting mitochondrial homeostasis. 61
30573525 2019
11
[Saccharopinuria (a variant form of familial hyperlysinemia)]. 61
9590025 1998
12
[Inborn errors of lysine metabolism]. 61
1904694 1991
13
Inhibition of urea cycle enzymes by lysine and saccharopine. 61
3109421 1987
14
[A patient with persistent hyperlysinemia]. 61
6407142 1983
15
Separation of ornithine and lysine activities of the ornithine-transcarbamylase-catalyzed reaction. 61
6409607 1983
16
Familial hyperlysinemia: enzyme studies, diagnostic methods, comments on terminology. 61
463877 1979
17
Glutaric aciduria: biochemical and morphologic considerations. 61
856963 1977
18
Enzyme studies in a patient with saccharopinuria: a defect of lysine metabolism. 61
4809305 1974
19
[Saccharopinuria]. 61
4727605 1973
20
Effects of supersuppressor genes on enzymes controlling lysine biosynthesis in Saccharomyces. 61
5411748 1970

Variations for Saccharopinuria

ClinVar genetic disease variations for Saccharopinuria:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AASS NM_005763.4(AASS):c.2762A>G (p.Gln921Arg) SNV Uncertain significance 252652 rs140285200 GRCh37: 7:121716562-121716562
GRCh38: 7:122076508-122076508
2 AASS NM_005763.4(AASS):c.1048G>A (p.Val350Met) SNV Uncertain significance 973452 GRCh37: 7:121753770-121753770
GRCh38: 7:122113716-122113716
3 AASS NM_005763.4(AASS):c.1876A>G (p.Ile626Val) SNV Uncertain significance 973464 GRCh37: 7:121731897-121731897
GRCh38: 7:122091843-122091843

Expression for Saccharopinuria

Search GEO for disease gene expression data for Saccharopinuria.

Pathways for Saccharopinuria

Pathways related to Saccharopinuria according to KEGG:

36
# 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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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