Saccharopinuria
Synonyms: Hyperlysinemia type II · Saccharopine dehydrogenase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare autosomal recessive disorder of the lysine catabolism characterized by elevated levels of lysine in the cerebrospinal fluid and blood with variable degrees of saccharopinuria. Some patients present with neurological symptoms such as seizures, spastic diplegia, mild psychomotor delay, intellectual deficit, and behavioral difficulties. However, current findings suggest no causal association between isolated hyperlysinemia and neurological symptoms.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Saccharopinuria | Hyperlysinemia type II · Saccharopine dehydrogenase deficiency |
| fr | Saccharopinurie | Déficit en saccharopine déshydrogénase · Hyperlysinémie type II |
| de | Saccharopinurie | Hyperlysinämie Typ II · Saccharopin-Dehydrogenase-Mangel |
| es | Sacaropinuria | Deficiencia de sacaropina deshidrogenasa · Hiperlisinemia tipo 2 |
| it | Saccaropinuria | Deficit di saccaropina deidrogenasi · Iperlisinemia, tipo II |
| nl | Saccharopinurie | Deficiëntie van saccharopine-dehydrogenase · Hyperlysinemie type II |
| pt | Sacaropinúria | Deficiência de sacaropina desidrogenase · Hiperlisinemia tipo II |
| pl | Sacharopinuria | Hiperlizynemia typu II · Niedobór dehydrogenazy sacharopiny |
| cs | Saccharopinurie | Hyperlysinémie, typ II · Deficit saccharopin dehydrogenázy |
| uk | Сахаропінурія | Гіперлізинемія II типу · Дефіцит сахаропіндегідрогенази |
| zh | 酵母丙氨酸尿症 | 酵母氨酸脱氢酶缺乏症 |
| tr | Sakaropinuri | Hiperlisinemi tip II · Sakaropin dehidrojenaz eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 268700 | E | validated | |
| ICD-10 | E72.3 | NTBT | attributed | validated |
| ICD-11 | 5C50.4 | NTBT | index | validated |
| MONDO | 0010005 | E | validated | |
| MeSH | C537218 | E | validated | |
| UMLS | C0268556 | E | validated | |
| GARD | 314 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:289832Disorder of lysine and hydroxylysine metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AASS | Disease-causing germline mutation(s) in | Assessed | HGNC:17366 | ENSG00000008311 | 605113 | 7q31.32 | aminoadipate-semialdehyde synthase | 10775527[PMID]_23570448[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
19 annotations · validated 2021-08-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011021 | Abnormality of circulating enzyme level | |
| HP:0002161 | Hyperlysinemia | |
| Frequent (79-30%) | ||
| HP:0001507 | Growth abnormality | |
| HP:0003297 | Hyperlysinuria | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0032397 | Citrullinuria | |
| HP:0100543 | Cognitive impairment | |
| HP:0003131 | Cystinuria | |
| HP:0002936 | Distal sensory impairment | |
| HP:0011966 | Elevated plasma citrulline | |
| HP:0002066 | Gait ataxia | |
| HP:0001987 | Hyperammonemia | |
| HP:0500151 | Hypercystinemia | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0001268 | Mental deterioration | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0001250 | Seizure | |
| HP:0001264 | Spastic diplegia | |
| HP:0001337 | Tremor | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 33996359[PMID]_30573525[PMID]_32768327[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3124
- This record as JSON: /data/d/3124.json