Rare diseases · Sign or symptom
Abnormal circulating enzyme concentration or activity
HP:0012379
What it means
Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation.
Rare diseases that can present with this62
Very common80–99%
49- Aceruloplasminemia
- Acute intermittent porphyria
- Adenine phosphoribosyltransferase deficiency
- Adult-onset autosomal recessive cerebellar ataxia
- ALG2-CDG
- Alpha-mannosidosis, infantile form
- B4GALT1-CDG
- Brachytelephalangic chondrodysplasia punctata
- Cerebrotendinous xanthomatosis
- Chronic diarrhea due to glucoamylase deficiency
- Classic galactosemia
- Congenital bile acid synthesis defect type 2
- Congenital bile acid synthesis defect type 4
- Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
- D-glyceric aciduria
- Dimethylglycine dehydrogenase deficiency
- DK1-CDG
- Farber disease
- Fatal infantile lactic acidosis with methylmalonic aciduria
- Formiminoglutamic aciduria
- Fructose-1,6-bisphosphatase deficiency
- Galactokinase deficiency
- Galactose mutarotase deficiency
- Glutaryl-CoA dehydrogenase deficiency
- Glycogen storage disease due to acid maltase deficiency, infantile onset
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
- Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
- Glycogen storage disease due to liver phosphorylase kinase deficiency
- Hepatoerythropoietic porphyria
- Hereditary butyrylcholinesterase deficiency
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- HSD10 disease, infantile type
- HSD10 disease, neonatal type
- Hyperprolinemia type 2
- Infantile Krabbe disease
- Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
- Leigh syndrome
- Metachromatic leukodystrophy
- MPDU1-CDG
- Osteopetrosis with renal tubular acidosis
- Porphyria due to ALA dehydratase deficiency
- Primary triglyceride deposit cardiomyovasculopathy
- Pyruvate dehydrogenase E2 deficiency
- Rotor syndrome
- Short stature-delayed bone age due to thyroid hormone metabolism deficiency
- Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- Tay-Sachs disease
- Trehalase deficiency
- Variegate porphyria
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 1 disease 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
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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.