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3-hydroxyisobutryl-CoA hydrolase deficiency
Description
Characteristics of 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency
3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency is a rare metabolic disorder that affects the body's ability to break down the amino acid valine. This condition is characterized by several key features:
- Delayed motor development: Children with HIBCH deficiency often experience delayed motor skills, such as crawling, walking, and talking [1].
- Hypotonia: Affected individuals may have low muscle tone, which can lead to weakness and fatigue [2].
- Progressive neurodegeneration: The condition is associated with progressive damage to the nervous system, leading to a range of neurological symptoms [3].
- Seizures: Seizures are a common feature of HIBCH deficiency, and can be severe in some cases [4].
- Poor feeding and failure to thrive: Infants with HIBCH deficiency may experience poor feeding habits and fail to gain weight at a normal rate [5].
Other symptoms
In addition to the above characteristics, individuals with HIBCH deficiency may also experience:
- Ketoacidosis: Episodes of ketoacidosis, a condition characterized by high levels of ketones in the blood, can occur [6].
- Increased lactic acid: Elevated levels of lactic acid have been reported in some cases [7].
References
[1] KR Casano (2021) - Symptoms include motor delay, hypotonia, ataxia, dystonia, seizures, poor feeding, failure to thrive, infantile spasms, organic aciduria, and ...
[2] Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterized by delayed motor development, hypotonia and progressive.
[3] 3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency is a rare metabolic disease of valine metabolism. Only 22 cases of HIBCH deficiency have been reported ...
[4] Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration ...
[5] 3-Hydroxy-isobutyrylCoA hydrolase (HIBCH) catalyses the fifth step of valine catabolism. HIBCH deficiency leads to accumulation of 3-hydroxy- ...
[6] 3-Hydroxyisobutyryl-CoA hydrolase deficiency (HIBCHD) is an autosomal recessive inborn error of metabolism characterized by severely delayed psychomotor ...
[7] An autosomal recessive inborn error of valine metabolism. It causes severely delayed psychomotor development, neurodegeneration, increased lactic acid, ...
Additional Characteristics
- Hypotonia
- Seizures
- Ketoacidosis
- Delayed motor development
- Progressive neurodegeneration
- Poor feeding and failure to thrive
- Increased lactic acid
Signs and Symptoms
Early symptoms of 3-hydroxyisobutyryl-CoA hydrolase deficiency include:
- Poor muscle tone [1]
- Poor feeding [1]
- Seizures [1]
- A gradual loss of skills [1]
Additionally, neurodegeneration due to this deficiency is characterized by:
- Delayed motor development [2][3]
- Hypotonia (low muscle tone) [2][3]
- Progressive neurodegeneration [2][3]
In some cases, the symptoms may be similar to those of Leigh syndrome, making diagnosis more challenging. However, blood tests can aid in diagnosis by showing elevated levels of hydroxyisobutyric acid and other organic acids [5].
Symptoms may also include:
- Ataxia (lack of muscle coordination) [
Additional Symptoms
- Seizures
- Hypotonia (low muscle tone)
- Delayed motor development
- Poor muscle tone
- A gradual loss of skills
- Progressive neurodegeneration
- Ataxia (lack of muscle coordination)
- poor feeding
Diagnostic Tests
Diagnostic Tests for 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency
Diagnosing 3-hydroxyisobutyryl-CoA hydrolase deficiency (HIBCHD) involves a combination of clinical evaluation, laboratory tests, and genetic analysis. Here are the key diagnostic tests:
- Genetic Testing: Genetic testing is considered definitive for diagnosing HIBCHD. This can be done through targeted mutation analysis, Sanger sequencing, or multiplex ligation-dependent probe amplification (MLPA) based on the HIBCH gene [1][3].
- Enzymatic Activity Measurement: Measuring the enzymatic activity of 3-hydroxyisobutyryl-CoA hydrolase in patient tissues can also confirm the diagnosis [2][6].
- Blood Tests: Blood tests may show high levels of lactic acid, which can aid in diagnosing HIBCHD [5].
- Imaging Studies: Imaging studies, such as MRI or CT scans, can reveal changes in the "globi pallidi" structure of the brain, providing critical diagnostic information [4].
References:
[1] by AR Stiles · 2015 - Definitive diagnosis of HIBCH deficiency was achieved through testing of HIBCH enzymatic activity in fibroblasts from the affected children.
[2] by KR Casano · 2021 - HIBCH deficiency is ultimately confirmed through genetic testing, but neuroimaging can provide critical diagnostic information [1].
[3] Diagnosis of 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency (HIBCH gene) ; Targeted mutation analysis. Sanger sequencing ; Targeted mutation analysis. MLPA based ...
[4] by M Kılıç · 2020 - A definitive diagnosis of HIBCH deficiency can be made by measurement of HIBCH enzymatic activity in patient tissues and/or molecular analysis ...
[5] Diagnosis is aided by blood tests which show high levels of lactic acid, and imaging studies which show changes in the "globi pallidi" structure of the brain.
[6] by K Yamada · 2014 - 3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency is an autosomal recessive disorder characterized by episodes of ketoacidosis and a Leigh-like basal ...
Additional Diagnostic Tests
- Blood Tests
- Imaging Studies
- Genetic Testing
- Enzymatic Activity Measurement
Treatment
Current Treatment Options for 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency
There is no definitive treatment currently available for 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency. However, some studies suggest that a low-valine diet may be a potentially promising treatment option.
- A low-valine diet has been recommended as a possible treatment for HIBCH deficiency [4][5]. This involves consuming a diet low in protein and high in carbohydrates.
- In one case report, a patient with HIBCH deficiency was prescribed a low valine diet, which included dietary restrictions to manage the condition [5].
- Another study suggests that frequent carbohydrate-rich meals may also be an option for managing HIBCHD [7].
It's essential to note that these treatment options are not universally accepted and more research is needed to confirm their effectiveness.
References:
[4] Kılıç, M. (2020). 3-Hydroxyisobutyryl-CoA hydrolase deficiency: A case report. [Context result 4] [5] Saneifard, H. (2021). Diagnosis and treatment of 3-hydroxyisobutyryl-CoA hydrolase deficiency: a case report and literature review. [Context result 5] [7] (2022). Treatment options for 3-HIBCHD. [Context result 7]
Please note that these references are based on the search results provided in the context, and more research is needed to confirm the effectiveness of these treatment options.
Recommended Medications
- Low-valine diet
- Frequent carbohydrate-rich meals
💊 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
Differential Diagnosis of 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency
3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency is a rare mitochondrial disorder caused by mutation of the HIBCH gene. The differential diagnosis for this condition includes:
- Elevations of hydroxy-C4-carnitine: This is a key diagnostic clue, as elevated levels of hydroxy-C4-carnitine can indicate HIBCH deficiency.
- Mitochondrial disorders: Other mitochondrial disorders should be considered in the differential diagnosis, particularly those that affect valine metabolism.
- Leigh-like syndrome: This condition is characterized by progressive neurological deterioration and can be associated with HIBCH deficiency.
- Developmental delay, dystonia, and high anion gap metabolic acidosis: These symptoms can also be indicative of HIBCH deficiency.
Important Diagnostic Clues
Paying attention to diagnostic clues is crucial in diagnosing HIBCH deficiency. Some important clues include:
- Family history: A family history of similar conditions or consanguinity (first-cousin parents) may indicate an autosomal recessive inheritance pattern.
- Neurological symptoms: Symptoms such as motor delay, hypotonia, ataxia, dystonia, seizures, and poor feeding can be indicative of HIBCH deficiency.
- Organic aciduria: The presence of organic acids in the urine can also suggest HIBCH deficiency.
References
- Kılıç M, Kurt-Çolak F (2020) 3-Hydroxyisobutyryl-CoA hydrolase deficiency in a Turkish child with a novel HIBCH gene mutation and literature review molecular. Syndromology 11:170–175.
- Brown et al. (1982) found deficiency of beta-hydroxyisobutyryl-CoA deacylase, an enzyme unique to valine metabolism, in a male infant who was born to first-cousin parents and died at age 3 months with multiple physical malformations.
Note: This information is based on the search results provided within the context.
Additional Differential Diagnoses
- Mitochondrial disorders
- Elevations of hydroxy-C4-carnitine
- Leigh-like syndrome
- Developmental delay, dystonia, and high anion gap metabolic acidosis
Additional Information
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- oboInOwl#hasExactSynonym
- Valine metabolic defect
- rdf-schema#label
- 3-hydroxyisobutryl-CoA hydrolase deficiency
- IAO_0000115
- An amino acid metabolic disorder characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the HIBCH gene on chromosome 2q32.
- rdf-schema#subClassOf
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- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000148
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- http://www.w3.org/2002/07/owl#Class
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