HMG CoA lyase 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.
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
X-linked 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.
X-linked 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.
Other Names (AKA)
3-hydroxy-3-methylglutaryl-CoA lyase deficiency; Defect in leucine metabolism; HMG-CoA lyase deficiency;
Congenital and Genetic Diseases; Metabolic disorders; Newborn Screening
HMG CoA lyase deficiency is an
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||
|80%-99% of people have these symptoms|
High blood ammonia levels
|30%-79% of people have these symptoms|
Low number of red blood cells or hemoglobin
Lack of feeling, emotion, interest
|Elevated hepatic transaminase||
High liver enzymes
High blood uric acid level
|Increased serum lactate||0002151|
|Lipid accumulation in hepatocytes||0006561|
Low or weak muscle tone
|Prolonged prothrombin time||0008151|
Recurrent low blood sugar levels
Increased respiratory rate or depth of breathing
|5%-29% of people have these symptoms|
[ more ]
[ more ]
Decreased reflex response
[ more ]
Low blood pressure
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
|Intellectual disability, moderate||
IQ between 34 and 49
|Intellectual disability, severe||
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ]
Yellowing of the skin
[ more ]
Elevated white blood count
High white blood count
Increased blood leukocyte number
[ more ]
Decreased blood leukocyte number
Low white blood cell count
[ more ]
Increased number of platelets in blood
|1%-4% of people have these symptoms|
Acute pancreatic inflammation
Heart stops beating
Stretched and thinned heart muscle
Difficulty articulating speech
Coma caused by low blood sugar
Abnormally low body temperature
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of the cerebral white matter||0002500|
|Death in childhood||0003819|
|Decreased plasma carnitine||0003234|
|Decreased prothrombin time||0032198|
|Excessive daytime somnolence||
Excessive daytime sleepiness
More than typical sleepiness during day
[ more ]
Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes sepsis, fatty acid oxidation disorders, organic acidurias and Reye's syndrome.
Visit the Orphanet disease page for more information.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
FOD (Fatty Oxidation Disorder) Family Support Group
P.O. Box 54
Okemos, MI 48805-0054
Telephone: +1-517-381-1940 [8am 8pm EST every day]
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.
- Genetics Home Reference (GHR) contains information on HMG CoA lyase deficiency. This website is maintained by the National Library of Medicine.
- The Screening, Technology And Research in Genetics (STAR-G) Project has a fact sheet on this condition, which was written specifically for families that have received a diagnosis as a result of newborn screening. This fact sheet provides general information about the condition and answers questions that are of particular concern to parents.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- The New England Consortium of Metabolic Program has written medical guidelines called acute care protocols for HMG CoA lyase deficiency for health care professionals.
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss HMG CoA lyase deficiency. Click on the link to view a sample search on this topic.
- 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency. Genetics Home Reference. October 2008; https://ghr.nlm.nih.gov/condition/3-hydroxy-3-methylglutaryl-coa-lyase-deficiency.
- Bandeira A, Vilarinho L. 3-hydroxy-3-methylglutaric aciduria. Orphanet. August 2014; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=20.
- Organic Acid Oxidation Disorders: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. Screening, Technology and Research in Genetics (STAR-G). April 20, 2016; https://www.newbornscreening.info/Parents/organicaciddisorders/HMGCoA.html#4.