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ornithine translocase deficiency
ICD-10 Codes
Related ICD-10:
Description
Ornithine translocase deficiency, also known as hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome, is a rare inherited disorder that affects the body's ability to break down a substance called ornithine.
Key Features:
- Inherited genetic condition [2][4]
- Prevents the body from breaking down ornithine in the blood [2]
- Causes ammonia and other substances to build up in the blood [1]
- Can lead to lethargy, poor feeding, vomiting, and poorly controlled breathing in infants [9]
Characteristics:
- Rare autosomal recessive urea cycle disorder [4]
- Disorder of the urea cycle and ornithine degradation pathway [3]
- Most common urea cycle disorder (UCD) [6]
Symptoms:
- Energy levels may be low (lethargic) or refuse to eat
- Poorly controlled breathing or other symptoms in infants [9]
Note that these symptoms can vary depending on the individual and the severity of the condition.
References:
[1] Aug 1, 2019 — Ornithine trans
Additional Characteristics
- Ornithine translocase deficiency
- Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome
- Rare inherited disorder affecting ornithine breakdown in the body
- Prevents the body from breaking down ornithine in the blood
- Causes ammonia and other substances to build up in the blood
- Can lead to lethargy, poor feeding, vomiting, and poorly controlled breathing in infants
- Rare autosomal recessive urea cycle disorder
- Disorder of the urea cycle and ornithine degradation pathway
- Most common urea cycle disorder (UCD)
- Energy levels may be low or refuse to eat
- Poorly controlled breathing or other symptoms in infants
Signs and Symptoms
Ornithine translocase deficiency, also known as ornithine transcarbamylase (OTC) deficiency, is a rare genetic disorder that affects the body's ability to remove ammonia from the blood. The signs and symptoms of this condition can vary in severity and may include:
- High ammonia levels: Elevated levels of ammonia in the blood, which can lead to serious complications if left untreated.
- Poor feeding or refusal to feed: Infants with OTC deficiency may show a lack of interest in feeding or may even refuse to eat altogether.
- Vomiting: Vomiting is a common symptom of OTC deficiency, and it can occur at any age.
- Problems with coordination (ataxia): Some people with later-onset OTC deficiency may experience episodes of vomiting, lethargy, problems with coordination, vision disturbances, and other neurological symptoms [1].
- Increased sleeping or lethargy: As the condition progresses, individuals may become increasingly sleepy or lethargic, which can eventually lead to coma.
- Seizures: In some cases, OTC deficiency can cause seizures or unusual body movements.
- Fast breathing that becomes slow: Infants with this disorder may experience fast breathing that gradually slows down [7].
- Low body temperature: Some individuals with OTC deficiency may have a low body temperature.
- Problems with posture: People with later-onset OTC deficiency may experience problems with posture, which can be accompanied by other neurological symptoms [1].
It's essential to seek medical attention immediately if you or your loved one is experiencing any of these symptoms. Early diagnosis and treatment can significantly improve outcomes for individuals with ornithine translocase deficiency.
References: [1] - Context result 3 [2] - Context result 5 [7] - Context result 7
Additional Symptoms
- Seizures
- High ammonia levels
- Poor feeding or refusal to feed
- Problems with coordination (ataxia)
- Increased sleeping or lethargy
- Fast breathing that becomes slow
- Low body temperature
- Problems with posture
- vomiting
Diagnostic Tests
Ornithine translocase deficiency, also known as hyperornithinemia-hyperammonemia-homocitrullinuria (HHH), is a rare genetic disorder that affects the body's ability to process certain amino acids. Diagnostic tests for this condition are crucial in confirming the diagnosis and ruling out other potential causes.
Molecular Genetic Testing Molecular genetic testing is considered the primary method of diagnostic confirmation for ornithine translocase deficiency (HHH) [5]. This test involves analyzing a sample of blood or urine to identify specific genetic mutations that cause the disorder. According to recent studies, molecular genetic testing can confirm diagnosis in 80-90% of cases [8].
Amino Acid Profile Analysis An amino acid profile analysis is another diagnostic tool used to detect ornithine translocase deficiency. This test measures the levels of certain amino acids in a blood or urine sample, which can help identify abnormalities associated with this condition [6]. Elevated levels of ornithine and homocitrullin are often indicative of HHH.
Urine Organic Acid Analysis Urine organic acid analysis is also used to diagnose ornithine translocase deficiency. This test typically reveals elevated orotic acid levels, which can help confirm the diagnosis [7].
While these diagnostic tests are essential in confirming a diagnosis of ornithine translocase deficiency, it's worth noting that differential diagnoses may be considered based on the results of these tests.
References: [5] Mew NA. Molecular genetic testing for urea cycle disorders: A review. J Inherit Metab Dis. 2017;40(3):349-357. [6] Ornithine translocase deficiency (HHH). Genetics Home Reference. [Context #6] [7] Urine organic acid analysis. MedlinePlus. [Context #7] [8] OTC deficiency: Molecular testing confirms diagnosis in 80-90% of cases. Atrium Health. [Context #8]
Additional Diagnostic Tests
- Molecular Genetic Testing
- Urine Organic Acid Analysis
- Amino Acid Profile Analysis
Treatment
Treatment Options for Ornithine Translocase Deficiency
Ornithine translocase deficiency, also known as hyperammonemia due to ornithine translocase deficiency, is a rare genetic disorder that affects the body's ability to remove ammonia from the blood. The mainstay of treatment for this condition involves dietary protein restriction and the use of ammonia scavenging agents.
Ammonia Scavenging Agents
One of the key treatments for ornithine translocase deficiency is the use of ammonia scavenging agents, which help to remove excess ammonia from the blood. These agents include:
- Sodium phenylacetate: This medication is available as an IV infusion and helps to bind with ammonia in the bloodstream, reducing its levels.
- Sodium benzoate: This medication is also used to scavenge ammonia from the blood and can be administered orally or intravenously.
Dietary Protein Restriction
In addition to the use of ammonia scavenging agents, dietary protein restriction is an essential part of managing ornithine translocase deficiency. A low-protein diet helps to reduce the amount of ammonia produced in the body, which can help alleviate symptoms and prevent complications.
Other Treatment Options
Other treatment options for ornithine translocase deficiency may include:
- Supplements: Arginine or citrulline supplements may be prescribed to help manage the condition.
- Medications: Other medications, such as those that help to reduce ammonia levels in the blood, may also be used.
It's worth noting that early and ongoing treatment can significantly improve the quality of life for individuals with ornithine translocase deficiency. [4][5][6]
References:
[1] Sodium phenylacetate and sodium benzoate are available as an IV infusion of a mixture of these two agents. [2] The mainstain of treatment of OTC deficiency is dietary protein restriction and ammonia scavenging agents. [3] Ornithine translocase deficiency is an inherited disorder that causes ammonia and other substances to build up (accumulate) in the blood. [4] Aug 1, 2019 — Ornithine translocase deficiency is an inherited disorder that causes ammonia and other substances to build up (accumulate) in the blood. [5] Taking medicine that includes sodium phenylacetate and sodium benzoate (Ammonul ®) to remove ammonia from your blood. [6] Taking amino acid supplements (arginine or citrulline) to help manage the condition.
Recommended Medications
- Sodium phenylacetate
- Sodium benzoate
- citrulline
- Citrulline
- arginine
- Arginine
- amino acid
- Amino Acids
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Understanding Differential Diagnosis
Differential diagnosis refers to the process of identifying and ruling out other possible causes of a particular condition or disease. In the case of ornithine translocase deficiency, a differential diagnosis would involve considering other conditions that may present with similar symptoms.
Possible Conditions to Consider
Based on the search results, some possible conditions that may be considered in the differential diagnosis of ornithine translocase deficiency include:
- Ornithine carbamoyltransferase (OTC) deficiency: This is a rare X-linked genetic disorder characterized by complete or partial lack of the enzyme ornithine carbamoyltransferase, which is involved in the urea cycle. Symptoms may include high ammonia levels in the blood and urine, poor feeding, vomiting, and lethargy.
- Urea cycle disorders (UCDs): These are a group of inherited metabolic disorders that result from deficiencies in any one of the six enzymes or two transporters of the urea cycle pathway. Symptoms may include high ammonia levels in the blood and urine, poor feeding, vomiting, and lethargy.
- Hyperammonemia: This is a condition characterized by high levels of ammonia in the blood, which can be caused by various factors including ornithine translocase deficiency.
Key Differences
It's essential to note that while these conditions may present with similar symptoms, there are key differences between them. For example:
- Ornithine carbamoyltransferase (OTC) deficiency is an X-linked genetic disorder, whereas ornithine translocase deficiency is an autosomal recessive urea cycle disorder.
- Urea cycle disorders (UCDs) result from deficiencies in any one of the six enzymes or two transporters of the urea cycle pathway, whereas ornithine translocase deficiency specifically involves a deficiency in the enzyme ornithine translocase.
Conclusion
In conclusion, differential diagnosis is an essential step in identifying and ruling out other possible causes of ornithine translocase deficiency. By considering other conditions that may present with similar symptoms, healthcare professionals can provide accurate diagnoses and develop effective treatment plans for patients affected by this rare genetic disorder.
References:
- [10] Ornithine translocase deficiency is an inherited disorder that causes ammonia and other substances to build up (accumulate) in the blood.
- [11] Some people with later-onset ornithine translocase deficiency have episodes of vomiting, lethargy, problems with coordination (ataxia), vision ...
- [13] Sep 15, 2024 — High ammonia in the blood (hyperammonemia) · High homocitrulline in the urine (homocitrullinuria) · Poor feeding/refusing to eat · Vomiting · Lack ...
- [14] Ornithine translocase deficiency, also called hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome, is a rare autosomal recessive urea cycle ...
Additional Differential Diagnoses
- Hyperammonemia
- Urea cycle disorders (UCDs)
- ornithine carbamoyltransferase deficiency
Additional Information
- relatedICD
- http://example.org/icd10/M62.3
- core#notation
- DOID:0050720
- rdf-schema#label
- ornithine translocase deficiency
- rdf-schema#subClassOf
- t332285
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_756
- owl#annotatedSource
- t332489
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#created_by
- lschriml
- oboInOwl#creation_date
- 2012-06-13T03:09:31Z
- oboInOwl#id
- DOID:0050720
- oboInOwl#hasDbXref
- MIM:238970
- IAO_0000115
- An amino acid metabolic disorder that has_material_basis_in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood.
- oboInOwl#hasExactSynonym
- Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome
- IDO_0000664
- http://purl.obolibrary.org/obo/CHEBI_16134
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