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Disease Profile
Lysinuric protein intolerance
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.
Unknown
Age of onset
Infancy
ICD-10
E72.0
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)
LPI; Dibasicamino aciduria II
Categories
Congenital and Genetic Diseases; Metabolic disorders
Summary
Lysinuric
Lysinuric protein intolerance is caused by
Symptoms
Symptoms typically begin after an infant has stopped breastfeeding and started eating solid food. These symptoms include:[1][3]
• Nausea and vomiting after a protein-rich meal
• Episodes of extreme tiredness (lethargy) and coma
• Growth delay resulting in
• Muscle weakness
• Decreased immune function
• Weak, brittle bones (
• Lung and kidney involvement
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 | ||
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
30%-79% of people have these symptoms | ||
Abnormal bleeding |
Bleeding tendency
|
0001892 |
Abnormal circulating serine concentration | 0012278 | |
Low number of red blood cells or hemoglobin
|
0001903 | |
Argininuria |
High urine arginine levels
|
0003268 |
Bone marrow hypercellularity | 0031020 | |
Cirrhosis |
Scar tissue replaces healthy tissue in the liver
|
0001394 |
Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] |
0100543 |
Decreased glomerular filtration rate | 0012213 | |
Decreased HDL cholesterol concentration |
Decreased circulating high-density lipoprotein cholesterol
Decreased HDL cholesterol
Low HDL-cholesterol
[ more ] |
0003233 |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
Diarrhea |
Watery stool
|
0002014 |
Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
Elevated plasma citrulline | 0011966 | |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
Hemophagocytosis | 0012156 | |
Hepatic failure |
Liver failure
|
0001399 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Enlarged liver and spleen
|
0001433 | |
Hyperalaninemia |
Increased blood alanine
Increased serum alanine
[ more ] |
0003348 |
Hyperammonemia |
High blood ammonia levels
|
0001987 |
Hypercholesterolemia |
Elevated serum cholesterol
Elevated total cholesterol
Increased total cholesterol
[ more ] |
0003124 |
Hyperglutaminemia |
High plasma glutamine
|
0003217 |
Hyperglycinemia |
Elevated blood glycine levels
|
0002154 |
Hyperlysinuria |
High urine lysine levels
|
0003297 |
Hyperprolinemia | 0008358 | |
Hypertriglyceridemia |
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides
[ more ] |
0002155 |
Increased lactate dehydrogenase level | 0025435 | |
Increased LDL cholesterol concentration |
Increased circulating LDL level
Increased LDL cholesterol
[ more ] |
0003141 |
Infantile muscular |
Decreased muscle tone in infant
|
0008947 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Intraalveolar phospholipid accumulation | 0006517 | |
Leukopenia |
Decreased blood leukocyte number
Low white blood cell count
[ more ] |
0001882 |
Oral aversion | 0012523 | |
Osteopenia | 0000938 | |
Osteoporosis | 0000939 | |
High urine protein levels
Protein in urine
[ more ] |
0000093 | |
Respiratory insufficiency |
Respiratory impairment
|
0002093 |
Steatorrhea |
Fat in feces
|
0002570 |
Low platelet count
|
0001873 | |
Vomiting |
Throwing up
|
0002013 |
5%-29% of people have these symptoms | ||
Abnormal heart morphology |
Abnormality of the heart
Abnormally shaped heart
Heart defect
[ more ] |
0001627 |
Coma | 0001259 | |
Hepatic amyloidosis | 0012280 | |
Hypofibrinogenemia | 0011900 | |
Increased serum ferritin |
Elevated serum ferritin
High ferritin level
Increased ferritin
Increased serum ferritin level
[ more ] |
0003281 |
Increased serum zinc | 0011424 | |
Lethargy | 0001254 | |
Membranous nephropathy | 0012578 | |
Ornithinuria | 0003532 | |
Oroticaciduria |
High urine orotic acid levels
|
0003218 |
Pancreatitis |
Pancreatic inflammation
|
0001733 |
Psychotic episodes | 0000725 | |
Renal amyloidosis | 0001917 | |
Renal fibrosis | 0030760 | |
Tubulointerstitial nephritis | 0001970 | |
1%-4% of people have these symptoms | ||
Antinuclear |
0003493 | |
Complement deficiency | 0004431 | |
Decreased circulating antibody level | 0004313 |