Rare Endocrinology News

Disease Profile

Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency

Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.


US Estimated

Europe Estimated

Age of onset





Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.


dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.


Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.


Not applicable


Other names (AKA)

Short-chain enoyl-CoA hydratase deficiency; ECHS1D


Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency is an inborn error of metabolism characterized by delayed psychomotor development, neurological degeneration, increased lactic acid, and brain lesions in structures of the brain known as the basal ganglia.[1] It is one subtype of Leigh-Like syndrome.[2] Only a few cases have being reported. Symptoms may include delayed motor and speech development, hearing problems, poor muscle tone (hypotonia), poor suck, and sporadic lack of breath (apnea). Other symptoms reported include abnormal eye movements (nystagmus), heart defects, brain anomalies, and abnormal movements.[1] This condition is caused by mutations in the ECHS1 gene. It is inherited in an autosomal recessive pattern. There is only supportive treatment for the symptoms.[2]


This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
5%-29% of people have these symptoms
Hearing impairment
Hearing defect

[ more ]

Ventricular septal defect
Hole in heart wall separating two lower heart chambers
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
Decreased activity of the pyruvate dehydrogenase complex
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

Global developmental delay
Increased CSF lactate
Increased serum lactate
Involuntary, rapid, rhythmic eye movements
Involuntary muscle stiffness, contraction, or spasm

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency. Click on the link to view a sample search on this topic.


  1. Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency. OMIM. 2015; https://www.omim.org/entry/616277.
  2. Rahman S & Thorburn D. Nuclear Gene-Encoded Leigh Syndrome Overview. GeneReviews. October, 2015; https://www.ncbi.nlm.nih.gov/books/NBK320989/.