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lactic aciduria due to D-lactic acid - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lactic aciduria due to D-lactic acid

MONDO:0009505

Also known as:D-lactic aciduria with susceptibility to gout

Overview

GeneticsAutosomal recessive · LDHD (chr 16)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Elevated urine D-lactate level. 7 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	1	Microcephaly
Brain and nerves

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

LDHD encodes lactate dehydrogenase D (507 aa). The mitochondrial D-lactate dehydrogenase is a stereoselective dehydrogenase that targets a wide variety of D-2-hydroxyacids, particularly those with small to moderately sized hydrophobic groups attached to the C2 atom. Highest expression in Liver (91.7 TPM) and Heart Left Ventricle (58.5 TPM).

Lactic aciduria due to D-lactic acid is associated with mutations in the LDHD gene on chromosome 16.

The LDHD protein participates in Unknown enzyme(s) process 4-HMA to 4-Hbz, TIMM23 SORT inserts proteins into inner membrane, and Precursor proteins enter TIMM23 SORT pathways.

LDHD is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for LDHD is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature.

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 3:04 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:245450

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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lactic aciduria due to D-lactic acid

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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