Glycogen storage disease due to lactate dehydrogenase deficiency
Synonyms: GSD due to lactate dehydrogenase deficiency · Glycogenosis due to lactate dehydrogenase deficiency · LDH deficiency
- Type
- Disease
- Group
- Disorder
- Age of onset
- Childhood
- Status
- active
A rare genetic glycogen storage disease characterized by either lactate dehydrogenase (LDH) M- or H-subunit deficiency. Main features of LDH M-subunit deficiency are exertional fatigue and muscle pain potentially accompanied by myoglobinuria. Some patients may develop pustular psoriasis-like skin lesions. Complications of pregnancy, such as frequent abdominal pains and increased uterine tone with a risk of dystocia have also been described. LDH H-subunit deficiency manifests with low serum LDH activity of unclear clinical relevance.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Glycogen storage disease due to lactate dehydrogenase deficiency | GSD due to lactate dehydrogenase deficiency · Glycogenosis due to lactate dehydrogenase deficiency · LDH deficiency |
| fr | Glycogénose par déficit en lactate déshydrogénase | Déficit en LDH · GSD par déficit en lactate déshydrogénase |
| de | Glykogen-Speicherkrankheit durch Laktat-Dehydrogenase-Mangel | GSD durch Laktat-Dehydrogenase-Mangel · Glykogenose durch LDH-Mangel · LDH-Mangel |
| es | Enfermedad por almacenamiento de glucógeno por deficiencia de lactato deshidrogenasa | Deficiencia de LDH · GSD por deficiencia de lactato deshidrogenasa · Glucogenosis por deficiencia de lactato deshidrogenasa |
| it | Malattia da deposito di glicogeno secondaria al deficit di lattato deidrogenasi | Deficit di LDH · GSD da deficit di lattato deidrogenasi · Glicogenosi da deficit di lattato deidrogenasi |
| nl | Glycogeenstapelingsziekte door deficiëntie van lactaatdehydrogenase | GSD door deficiëntie van lactaatdehydrogenase · Glycogenose door deficiëntie van lactaatdehydrogenase · LDH-deficiëntie |
| pt | Doença de armazenamento de glicogénio por deficiência de lactato desidrogenase | |
| pl | Choroba spichrzania glikogenu z powodu niedoboru dehydrogenazy mleczanowej | Glikogenoza z powodu niedoboru dehydrogenazy mleczanowej · GSD z powodu niedoboru dehydrogenazy mleczanowej · Niedobór LDH |
| cs | Glykogenóza způsobená deficitem laktát dehydrogenázy | Deficit laktát dehydrogenázy · GSD způsobená deficitem laktát dehydrogenázy |
| uk | Хвороба накопичення глікогену, зумовлена дефіцитом лактатдегідрогенази | Глікогеноз внаслідок дефіциту лактатдегідрогенази · GSD внаслідок дефіциту лактатдегідрогенази · Дефіцит LDH |
| zh | 乳酸脱氢酶缺乏所致糖原贮积病 | 乳酸脱氢酶缺乏所致糖原贮积病 |
| tr | Laktat dehidrojenaz eksikliğine bağlı glikojen depo hastalığı | LDH eksikliği · Laktat dehidrojenaz eksikliğine bağlı GSD · Laktat dehidrojenaz eksikliğine bağlı glikojenoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612933 | BTNT | validated | |
| OMIM | 614128 | BTNT | validated | |
| ICD-10 | E74.4 | NTBT | attributed | validated |
| ICD-11 | 5C51.3 | NTBT | index | validated |
| MONDO | 0016527 | E | validated | |
| UMLS | C5575057 | E | validated | |
| GARD | 3159 | 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 (1):
- ORPHA:79201Glycogen storage disease
rare inborn errors of metabolism; rare genetic diseases
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| LDHA | ORPHA:284426Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | Disease-causing germline mutation(s) in | Assessed | HGNC:6535 | ENSG00000134333 | 150000 | 11p15.1 | lactate dehydrogenase A | |
| LDHB | ORPHA:284435Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | Disease-causing germline mutation(s) in | Assessed | HGNC:6541 | ENSG00000111716 | 150100 | 12p12.1 | lactate dehydrogenase B |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
11 annotations · validated 2018-01-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0003542 | Increased circulating pyruvate concentration | |
| Frequent (79-30%) | ||
| HP:0009020 | Exercise-induced muscle fatigue | |
| HP:0003394 | Muscle spasm | |
| HP:0003552 | Muscle stiffness | |
| HP:0003326 | Myalgia | |
| HP:0002913 | Myoglobinuria | |
| HP:0000972 | Palmoplantar hyperkeratosis | |
| Occasional (29-5%) | ||
| HP:0000083 | Renal insufficiency | |
| HP:0003201 | Rhabdomyolysis | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 1999544[PMID]_6517049[PMID]_8270259[PMID]_5119336[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2364
- This record as JSON: /data/d/2364.json