ORPHA:2203
Hyperlysinemia
Synonyms: Hyperlysinemia type I · Lysine alpha-ketoglutarate reductase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare autosomal recessive disorder of lysine metabolism characterized by elevated levels of lysine in the cerebrospinal fluid and blood. Hyperlysinemia type I has been associated with a highly variable phenotype including seizures, hypotonia, and mild psychomotor delay, although isolated hyperlysinemia is probably a benign condition.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hyperlysinemia | Hyperlysinemia type I · Lysine alpha-ketoglutarate reductase deficiency |
| fr | Hyperlysinémie | Déficit en lysine alpha-cétoglutarate réductase · Hyperlysinémie type I |
| de | Hyperlysinämie | Hyperlysinämie Typ I · Lysin-alpha-Ketoglutarat-Reduktase-Mangel |
| es | Hiperlisinemia | Deficiencia de lisina alfa-cetoglutarato reductasa · Hiperlisinemia tipo 1 |
| it | Iperlisinemia | Deficit di lisina alfa-chetoglutarato reduttasi · Iperlisinemia, tipo I |
| nl | Hyperlysinemie | Deficiëntie van lysine alfa-ketoglutaraat-reductase · Hyperlysinemie type I |
| pt | Hiperlisinemia | Deficiência de lisina alfa-cetoglutarato redutase · Hiperlisinemia tipo I |
| pl | Hiperlizynemia | Hiperlizynemia typu I · Niedobór reduktazy lizyny alfa-keto glutarowej |
| cs | Hyperlysinémie | Hyperlysinémie, typ I · Deficit lysin alfa-ketoglutarát reduktázy |
| uk | Гіперлізинемія | Гіперлізінемія I типу · Дефіцит лізин-альфа-кетоглутаратредуктази |
| zh | 高赖氨酸血症 | 赖氨酸α酮戊二酸还原酶缺乏性疾病 |
| tr | Hiperlizinemi | Hiperlisinemi tip I · Lizin alfa-ketoglutarat redüktaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 238700 | E | validated | |
| OMIM | 238710 | BTNT | validated | |
| ICD-10 | E72.3 | NTBT | inclusion | validated |
| ICD-11 | 5C50.4 | NTBT | index | validated |
| MONDO | 0009388 | E | validated | |
| MeSH | D020167 | E | validated | |
| UMLS | C0268553 | E | validated | |
| GARD | 2828 | E | validated | |
| MedDRA | 10081311 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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.
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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 | 23570448[PMID]_23890588[PMID]_10775527[PMID] |
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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.
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HPO phenotypes
57 annotations · validated 2021-07-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0500243 | Abnormal CSF ornithine concentration | |
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0003268 | Argininuria | |
| HP:0000708 | Atypical behavior | |
| HP:0003131 | Cystinuria | |
| HP:0500204 | Decreased CSF arginine concentration | |
| HP:0012403 | Decreased urine alpha-ketoglutarate concentration | |
| HP:0000750 | Delayed speech and language development | |
| HP:0010850 | EEG with spike-wave complexes | |
| HP:0008947 | Floppy infant | |
| HP:0001263 | Global developmental delay | |
| HP:0001987 | Hyperammonemia | |
| HP:0002161 | Hyperlysinemia | |
| HP:0003297 | Hyperlysinuria | |
| HP:0500163 | Hypoornithinemia | |
| HP:0500208 | Increased CSF lysine concentration | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0001250 | Seizure | |
| HP:0000736 | Short attention span | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0100022 | Abnormality of movement | |
| HP:0001348 | Brisk reflexes | |
| HP:0002312 | Clumsiness | |
| HP:0001363 | Craniosynostosis | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0001310 | Dysmetria | |
| HP:0002015 | Dysphagia | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000218 | High palate | |
| HP:0000752 | Hyperactivity | |
| HP:0009739 | Hypoplasia of the antihelix | |
| HP:0008589 | Hypoplastic helices | |
| HP:0000601 | Hypotelorism | |
| HP:0006889 | Intellectual disability, borderline | |
| HP:0011342 | Mild global developmental delay | |
| HP:0040288 | Nasogastric tube feeding | |
| HP:0031867 | Neck hypertonia | |
| HP:0002179 | Opisthotonus | |
| HP:0002275 | Poor motor coordination | |
| HP:0002033 | Poor suck | |
| HP:0004971 | Pulmonary artery hypoplasia | |
| HP:0006532 | Recurrent pneumonia | |
| HP:0011171 | Simple febrile seizure | |
| HP:0000319 | Smooth philtrum | |
| HP:0001264 | Spastic diplegia | |
| HP:0001285 | Spastic tetraparesis | |
| HP:0000486 | Strabismus | |
| HP:0045074 | Thin eyebrow | |
| HP:0030051 | Tip-toe gait | |
| HP:0001337 | Tremor | |
| HP:0025331 | Upgaze palsy | |
| HP:0002013 | Vomiting | |
Annotation source: 23890588[PMID]_23570448[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2203
- This record as JSON: /data/d/2203.json