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Disease Profile
Lysosomal acid lipase 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.
1-9 / 100 000
Age of onset
Neonatal
ICD-10
E75.5
Inheritance
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.
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.
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)
LAL deficiency; LIPA deficiency
Summary
Lysosomal acid lipase deficiency is a metabolic lipid storage disease.[1][2] Two rare conditions may result from this deficiency (likely representing two ends of a clinical spectrum):[1][3]
- Wolman disease: The early-onset and most severe form of the disease where lipids accumulate throughout the body, mostly in the liver, within the first weeks of life. Symptoms include an enlarged liver and spleen (
hepatosplenomegaly ), poor weight gain, a yellowish color of the skin and the whites of the eyes (jaundice ), vomiting, diarrhea, fattystool (steatorrhea), and poor absorption of nutrients from food (malabsorption), as well as calcium deposits in adrenal glands,anemia , liver disease (cirrhosis), anddevelopmental delay . Infants with this form of lysosomal acid lipase deficiency develop failure in multipleorgans , and severe malnutrition. - Cholesteryl ester storage disease: Less severe and starting later in life. Symptoms may include hepatosplenomegaly, liver disease (cirrhosis), and malabsorption with diarrhea, vomiting, and steatorrhea.
Lysosomal acid lipase deficiency is caused by
Symptoms
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:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Abdominal distention |
Abdominal bloating
Abdominal swelling
Belly bloating
Bloating
[ more ] |
0003270 |
Abdominal pain |
Pain in stomach
Stomach pain
[ more ] |
0002027 |
Adrenal calcification | 0010512 | |
Elevated alkaline phosphatase |
Greatly elevated alkaline phosphatase
High serum alkaline phosphatase
Increased alkaline phosphatase
Increased serum alkaline phosphatase
[ more ] |
0003155 |
Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
Fatal liver failure in infancy | 0006583 | |
Hepatic fibrosis | 0001395 | |
Enlarged liver and spleen
|
0001433 | |
Hypercholesterolemia |
Elevated serum cholesterol
Elevated total cholesterol
Increased total cholesterol
[ more ] |
0003124 |
Hypertriglyceridemia |
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides
[ more ] |
0002155 |
Yellow skin
Yellowing of the skin
[ more ] |
0000952 | |
Microvesicular hepatic steatosis | 0001414 | |
Steatorrhea |
Fat in feces
|
0002570 |
Vacuolated |
0001922 | |
30%-79% of people have these symptoms | ||
Coronary artery atherosclerosis |
Plaque build-up in arteries supplying blood to heart
|
0001677 |
Diarrhea |
Watery stool
|
0002014 |
Esophageal varix |
Enlarged vein in esophagus
|
0002040 |
Precocious atherosclerosis | 0004416 | |
Stroke | 0001297 | |
Xanthelasma |
Fatty deposits in skin around the eyes
Fatty deposits on eyelids
[ more ] |
0001114 |
5%-29% of people have these symptoms | ||
Abnormal urine potassium concentration | 0012598 | |
Acidosis | 0001941 | |
Low number of red blood cells or hemoglobin
|
0001903 | |
Ascites |
Accumulation of fluid in the abdomen
|
0001541 |
Bone-marrow foam |
0004333 | |
Cachexia |
Wasting syndrome
|
0004326 |
Dehydration | 0001944 | |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
Global |
0001263 | |
Hyperkalemia |
Elevated serum potassium levels
|
0002153 |
Hypernatriuria | 0012605 | |
Hypersplenism | 0001971 | |
Hyponatremia |
Low blood sodium levels
|
0002902 |
Hypotension |
Low blood pressure
|
0002615 |
Hypovolemia |
Depleted blood volume
|
0011106 |
Malnutrition | 0004395 | |
Primary adrenal insufficiency | 0008207 | |
Pruritus |
Itching
Itchy skin
Skin itching
[ more ] |
0000989 |
Psychomotor deterioration | 0002361 | |
Pulmonary arterial |
Increased blood pressure in blood vessels of lungs
|
0002092 |
Renal salt wasting |
Loss of salt in urine
|
0000127 |
Vomiting |
Throwing up
|
0002013 |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Cirrhosis |
Scar tissue replaces healthy tissue in the liver
|
0001394 |
Death in infancy |
Infantile death
Lethal in infancy
[ more ] |
0001522 |
Hepatic steatosis |
Fatty infiltration of liver
Fatty liver
[ more ] |
0001397 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Protuberant abdomen |
Belly sticks out
Extended belly
[ more ] |
0001538 |
Splenomegaly |
Increased spleen size
|
0001744 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatment
FDA-Approved Treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- Sebelipase alfa(Brand name: Kanuma) Manufactured by Alexion Pharmaceuticals
FDA-approved indication: Indicated for the treatment of patients with a diagnosis of lysosomal acid Lipase (LAL) deficiency.
National Library of Medicine Drug Information Portal
Organizations
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.
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.
Where to Start
- The National Institute of Neurological Disorders and Stroke (NINDS) (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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.
- 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 Lysosomal acid lipase deficiency. Click on the link to view a sample search on this topic.
References
- Acid Lipase Disease Information Page. National Institute of Neurological Disorders and Stroke (NINDS). https://www.ninds.nih.gov/Disorders/All-Disorders/Acid-Lipase-Disease-Information-Page. Accessed 12/6/2017.
- Lysosomal acid lipase deficiency. Orphanet. April 2014; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=275761. Accessed 7/14/2015.
- Lysosomal Acid Lipase Deficiency. Online Mendelian Inheritance in Man (OMIM). December 17, 2013; https://www.omim.org/entry/278000. Accessed 7/14/2015.