Early-onset gout and rare deficient variants of the lactate dehydrogenase D gene
Authors' conclusion
Rare, damaging LDHD variants can cause autosomal recessive early-onset gout, the diagnosis of which can be suspected by measuring high d-lactate levels in the blood and/or urine.
Study context
- Population
- Two families (Melanesian, Vietnamese) and an isolated Moroccan patient with juvenile/early-onset gouttwo families and one isolated patient
- Comparison
- Lactate dehydrogenase D (LDHD) homozygotes vs non-homozygotes
- Outcome
- Linkage of juvenile-onset gout to LDHD deficiency
Methodological detailswhole-exome sequencing, targeted gene-sequencing panel
- Whole-exome sequencing
- Targeted gene-sequencing panel
Main finding
As reported in the abstract
Linkage of juvenile-onset gout to LDHD variants
- Juvenile-onset gout linked to homozygous carriage of three rare distinct LDHD variants in three ethnicities
- Vietnamese family: very severe juvenile-onset gout linked to homozygous undescribed LDHD frameshift variant c.1363dupG, p.(AlaGly432fsTer58)
- Moroccan man with early onset and high d-lactaturia homozygous for rare LDHD variant c.752C>T, p.(Thr251Met)
- Homozygotes vs Non-homozygotes: P = 0.02
- Homozygotes vs Non-homozygotes: P = 0.002
- Homozygotes vs Non-homozygotes: P = 0.04
- Homozygotes vs Non-homozygotes: P = 0.06
Original publication
Early-onset gout and rare deficient variants of the lactate dehydrogenase D gene. Rheumatology (Oxford). Published 6 April 2023. doi:10.
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