Rare diseases · Sign or symptom
Lactic acidosis
Increased lactate in body
HP:0003128
What it means
An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.
Note that the term acidemia is used to describe the state of low pH in the blood, whereas acidosis is used to describe the processes that lead to acidemia. In medical jargon, however, the two terms are used interchangeably.
Rare diseases that can present with this55
Very common80–99%
19- 3-hydroxyisobutyric aciduria
- Cardiomyopathy-hypotonia-lactic acidosis syndrome
- Combined oxidative phosphorylation defect type 23
- Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
- Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
- Ethylene glycol poisoning
- Fructose-1,6-bisphosphatase deficiency
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
- GRACILE syndrome
- HSD10 disease, neonatal type
- Isolated complex I deficiency
- Leigh syndrome
- MEGDEL syndrome
- MELAS
- Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
- Mitochondrial myopathy and sideroblastic anemia
- Neonatal intrahepatic cholestasis due to citrin deficiency
- Pyruvate carboxylase deficiency
- Pyruvate dehydrogenase E3 deficiency
Common30–79%
20- 2p21microdeletion syndrome
- Acyl-CoA dehydrogenase 9 deficiency
- Barth syndrome
- Colchicine poisoning
- Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
- Ethylmalonic encephalopathy
- Fatal infantile lactic acidosis with methylmalonic aciduria
- Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- HSD10 disease, infantile type
- Isolated ATP synthase deficiency
- Isovaleric acidemia
- Mitochondrial neurogastrointestinal encephalomyopathy
- Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
- Phosphoenolpyruvate carboxykinase deficiency
- Pyruvate dehydrogenase E1-alpha deficiency
- Pyruvate dehydrogenase E1-beta deficiency
- Pyruvate dehydrogenase E3-binding protein deficiency
- Pyruvate dehydrogenase phosphatase deficiency
- Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
- WARS2-related combined oxidative phosphorylation defect
Sometimes5–29%
11- 3-methylglutaconic aciduria type 4
- Autosomal recessive ataxia due to ubiquinone deficiency
- Autosomal recessive cerebelloparenchymal disorder type 3
- Cholera
- Exercise-induced malignant hyperthermia
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Marburg hemorrhagic fever
- Multiple acyl-CoA dehydrogenase deficiency
and 3 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. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Hyperlacticacidemia · Lactic acidemia · Lacticacidemia · Lacticacidosis
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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.