Rare diseases · Sign or symptom
Increased circulating lactate concentration
HP:0002151
What it means
Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).
Rare diseases that can present with this56
Very common80–99%
14- 3-methylglutaconic aciduria type 9
- Cardiomyopathy-hypotonia-lactic acidosis syndrome
- Combined oxidative phosphorylation defect type 13
- Combined oxidative phosphorylation defect type 29
- Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
- Glycogen storage disease due to lactate dehydrogenase deficiency
- HSD10 disease, infantile type
- Leigh syndrome
- MELAS
- Pyruvate carboxylase deficiency
- Pyruvate dehydrogenase E1-alpha deficiency
- Pyruvate dehydrogenase E3-binding protein deficiency
- Pyruvate dehydrogenase E3 deficiency
- Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
Common30–79%
29- 3-hydroxy-3-methylglutaric aciduria
- 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
- Acyl-CoA dehydrogenase 9 deficiency
- Autosomal dominant mitochondrial myopathy with exercise intolerance
- Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
- Bacterial toxic-shock syndrome
- Combined oxidative phosphorylation defect type 27
- Dilated cardiomyopathy with ataxia
- DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
- Fatal infantile lactic acidosis with methylmalonic aciduria
- Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation
- Mitochondrial DNA-associated Leigh syndrome
- Mitochondrial DNA-related cardiomyopathy and hearing loss
- Mitochondrial DNA-related progressive external ophthalmoplegia
- Multiple mitochondrial dysfunctions syndrome type 1
- Multiple mitochondrial dysfunctions syndrome type 2
- Multiple mitochondrial dysfunctions syndrome type 3
- Multiple mitochondrial dysfunctions syndrome type 5
- NAD(P)HX dehydratase deficiency
- Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
- Ocular anomalies-axonal neuropathy-developmental delay syndrome
- Pearson syndrome
- Phosphoenolpyruvate carboxykinase deficiency
- Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy
- Pyruvate dehydrogenase phosphatase deficiency
- Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
- Severe X-linked mitochondrial encephalomyopathy
- Spinocerebellar ataxia with epilepsy
- WARS2-related combined oxidative phosphorylation defect
Sometimes5–29%
13- Autosomal dominant progressive external ophthalmoplegia
- Autosomal recessive ataxia due to ubiquinone deficiency
- Beta-ketothiolase deficiency
- Cardiogenic shock
- Cerebrotendinous xanthomatosis
- Combined oxidative phosphorylation defect type 39
- Isolated mesenteric vein thrombosis
- Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
and 5 more in this range
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions, and Orphanet separately records 3 diseases where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Higher than normal levels of lactate in blood · Increased blood lactate · Increased serum lactate
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.