Rare diseases · Sign or symptom
Increased CSF lactate
HP:0002490
What it means
Increased concentration of lactate in the cerebrospinal fluid.
Rare diseases that can present with this30
Very common80–99%
8- Combined oxidative phosphorylation defect type 29
- Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
- HSD10 disease, infantile type
- Isolated complex I deficiency
- Leigh syndrome
- Mitochondrial DNA-associated Leigh syndrome
- Pyruvate dehydrogenase E1-alpha deficiency
- Pyruvate dehydrogenase E3-binding protein deficiency
Common30–79%
11- Combined oxidative phosphorylation defect type 13
- Combined oxidative phosphorylation defect type 39
- Fatal infantile lactic acidosis with methylmalonic aciduria
- MELAS
- Multiple mitochondrial dysfunctions syndrome type 3
- NAD(P)HX dehydratase deficiency
- NAD(P)HX epimerase deficiency
- Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
- Pearson syndrome
- Pyruvate carboxylase deficiency
- Severe X-linked mitochondrial encephalomyopathy
Sometimes5–29%
11- Acquired aneurysmal subarachnoid hemorrhage
- Autosomal recessive ataxia due to ubiquinone deficiency
- Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
- Hyperprolinemia type 2
- Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation
- Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
- Multiple mitochondrial dysfunctions syndrome type 1
- Multiple mitochondrial dysfunctions syndrome type 2
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: Hyperlactatorachia · Increased cerebrospinal fluid lactate · Increased CSF lactic acid
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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.