Glycogen storage disease due to lactate dehydrogenase deficiency

MedGen UID:: 1805539
•Concept ID:: C5575057
•: Disease or Syndrome

Synonym:	Lactate dehydrogenase deficiency
SNOMED CT:	Glycogen storage disease type XI (1186809004); Glycogen storage disease due to lactate dehydrogenase deficiency (1186809004)

Monarch Initiative:	MONDO:0016527
Orphanet:	ORPHA2364

Definition

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. [from ORDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVGlycogen storage disease due to lactate dehydrogenase deficiency

Non-Neoplastic Disorder
- Non-Neoplastic Disorder by Special Category
  - Metabolic disease
    - Carbohydrate metabolism disease
      - Inborn carbohydrate metabolic disorder
        Glycogen storage disease
        Glycogen storage disease due to lactate dehydrogenase deficiency
        Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
        Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency

Recent clinical studies

Diagnosis

Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI).

Serrano-Lorenzo P, Rabasa M, Esteban J, Hidalgo Mayoral I, Domínguez-González C, Blanco-Echevarría A, Garrido-Moraga R, Lucia A, Blázquez A, Rubio JC, Palma-Milla C, Arenas J, Martín MA
Genes (Basel) 2022 Oct 11;13(10) doi: 10.3390/genes13101835. PMID: 36292720 Free PMC Article

Tarui disease and distal glycogenoses: clinical and genetic update.

Toscano A, Musumeci O
Acta Myol 2007 Oct;26(2):105-7. PMID: 18421897 Free PMC Article

Metabolic myopathies.

Ruderman MI, Zito G
N J Med 1986 Jan;83(1):36-40. PMID: 3005929

See all (3)

Therapy

The SGLT2 inhibitor dapagliflozin improves kidney function in glycogen storage disease XI.

Trepiccione F, Iervolino A, D'Acierno M, Siccardi S, Costanzo V, Sardella D, De La Motte LR, D'Apolito L, Miele A, Perna AF, Capolongo G, Zacchia M, Frische S, Nielsen R, Staiano L, Sambri I, De Cegli R, Unwin R, Eladari D, Capasso G
Sci Transl Med 2023 Nov;15(720):eabn4214. Epub 2023 Nov 1 doi: 10.1126/scitranslmed.abn4214. PMID: 37910600

See all (1)