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congenital glutamine deficiency
Description
Congenital Glutamine Deficiency (GLND) Overview
Congenital glutamine deficiency, also known as GLND, is a rare and severe genetic disorder that affects the body's ability to produce glutamine, an essential amino acid. This condition is characterized by:
- Severe autosomal recessive disorder: GLND is inherited in an autosomal recessive pattern, meaning that both parents must be carriers of the mutated gene for their child to develop the condition.
- Onset at birth: Symptoms of GLND typically appear at birth or shortly thereafter.
- Encephalopathy and developmental delay: Individuals with GLND often experience severe encephalopathy (brain dysfunction), leading to significant developmental delays, seizures, and other neurological problems.
Key Biochemical Features
The main biochemical hallmark of GLND is the presence of:
- Decreased glutamine levels: Low levels of glutamine in body fluids are a characteristic feature of this condition.
- Chronic hyperammonemia: Elevated ammonia levels in the blood are also commonly observed in individuals with GLND.
Glutamine Synthetase Role
Glutamine synthetase plays a crucial role in ammonia detoxification, interorgan nitrogen flux, acid-base homeostasis, and cell signaling. In individuals with GLND, this enzyme's function is impaired, leading to the accumulation of ammonia and other metabolic byproducts.
Supplementation and Treatment
While there are no specific treatments for GLND, supplementation with glutamine has been suggested as a possible therapeutic approach to prevent or alleviate some symptoms associated with this condition [8].
References:
[1] Congenital glutamine deficiency (GLND) is a severe autosomal recessive disorder characterized by onset at birth of encephalopathy, lack of normal ... [3] [4] Biochemical hallmarks are decreased levels of glutamine in body fluids and chronic hyperammonemia. [4] [5] Glutamine synthetase plays a major role in ammonia detoxification, interorgan nitrogen flux, acid-base homeostasis, and cell signaling. [5] [6] Congenital glutamine deficiency (GLND) is a severe autosomal recessive disorder characterized by onset at birth of encephalopathy, lack of normal ... [3] [7] An autosomal recessive disorder characterized by variable brain malformations, encephalopathy, severe developmental delay, seizures, and decreased glutamine ... [7] [8] Glutamine supplementation for congenital glutamine deficiency ... Supplementation with glutamine can possibly prevent the development of mental ... [8] [9] Congenital glutamine deficiency (GLND) is a rare and severe genetic disorder that manifests from birth with a range of neurological and ... [9]
Additional Characteristics
- Congenital glutamine deficiency, also known as GLND
- Severe autosomal recessive disorder
- Onset at birth
- Encephalopathy and developmental delay
- Decreased glutamine levels
- Chronic hyperammonemia
- Glutamine synthetase plays a crucial role in ammonia detoxification, interorgan nitrogen flux, acid-base homeostasis, and cell signaling
- Supplementation with glutamine has been suggested as a possible therapeutic approach
Signs and Symptoms
Common Signs and Symptoms of Congenital Glutamine Deficiency
Congenital glutamine deficiency (GLND) is a severe autosomal recessive disorder that can manifest in various ways, affecting different aspects of an individual's health. The following are some common signs and symptoms associated with GLND:
- Refusal to eat or poor feeding habits: Affected individuals may exhibit difficulty in feeding or show no interest in eating, which can lead to malnutrition and other related complications [8].
- Progressive lethargy (extreme tiredness): People with GLND may experience extreme fatigue, making it challenging for them to engage in physical activities or even perform daily tasks [8].
- Recurrent vomiting: Vomiting can be a recurring issue in individuals with GLND, leading to dehydration and electrolyte imbalances if left untreated [8].
- Diarrhea: Diarrhea is another common symptom associated with GLND, which can further exacerbate the condition by causing dehydration and malabsorption of essential nutrients [8].
- Irritability: Affected individuals may become irritable or agitated due to their discomfort and distress caused by the symptoms [8].
- Enlarged liver (hepatomegaly): In some cases, GLND can lead to an enlarged liver, which is a sign of liver dysfunction and potential complications [8].
Additional Symptoms
In addition to these common signs and symptoms, individuals with GLND may also experience:
- Seizures: Seizures are a possible symptom of GLND, indicating abnormal electrical activity in the brain [6].
- Muscle hypotonia (weakness): Affected individuals may exhibit muscle weakness or hypotonia, which can impact motor function and overall mobility [6].
- Ventriculomegaly: Enlargement of the ventricles in the brain is another possible symptom associated with GLND [5].
References
[8] - Signs & Symptoms · Refusal to eat or poor feeding habits · Progressive lethargy (extreme tiredness) · Recurrent vomiting · Diarrhea · Irritability · Enlarged liver (hepatomegaly) · ...
[6] - Sep 5, 2024 — Affected individuals may also experience seizures and muscle hypotonia, which refers to decreased muscle tone that can impact motor function and overall mobility.
[5] - Symptoms · hyperreflexia · hypotonia · ventriculomegaly · encephalopathy · brain atrophy · subependymal cysts · periventricular cysts · thin corpus callosum ...
Additional Symptoms
- Seizures
- Recurrent vomiting
- Enlarged liver (hepatomegaly)
- Ventriculomegaly
- Progressive lethargy (extreme tiredness)
- muscle weakness
- poor feeding
- diarrhea
- irritability
Diagnostic Tests
Diagnostic Tests for Congenital Glutamine Deficiency
Congenital glutamine deficiency, a rare genetic disorder, can be diagnosed through various laboratory and imaging tests. Here are some of the diagnostic tests used to identify this condition:
- Blood tests: Measure levels of glutamine and other amino acids in the blood to confirm decreased glutamine levels [8][9].
- Brain imaging tests: Use MRI or CT scans to visualize brain malformations and abnormalities associated with congenital glutamine deficiency [7][5].
- Electroencephalogram (EEG): Measures electrical activity in the brain to assess neurological function [7].
These diagnostic tests can help identify congenital glutamine deficiency, a condition characterized by severe brain malformations and decreased levels of glutamine in the body.
References
[5] Congenital brain dysgenesis due to glutamine synthetase deficiency. (Summary) [7] Tests names and labs, Conditions, Genes, analytes, and microbes, Methods. Glutamine deficiency, congenital, 610015, Autosomal recessive ... [8] Laboratory studies showed hyperammonemia and decreased glutamine in serum and CSF. ... Congenital glutamine deficiency with glutamine synthetase mutations. [9] The diagnosis of GS deficiency is suggested if decreased levels of glutamine in any body fluid are found. The three patients described here were ...
Additional Diagnostic Tests
- Blood tests
- Electroencephalogram (EEG)
- Brain imaging tests
Treatment
Treatment Options for Congenital Glutamine Deficiency
Congenital glutamine deficiency is a rare genetic disorder characterized by the inability to synthesize glutamine, an essential amino acid. While there is no established treatment for this condition, research has shown that supplementation with glutamine can be beneficial in managing symptoms and improving quality of life.
Glutamine Supplementation
Studies have demonstrated that supplementation with L-glutamine can correct the peripheral biochemical phenotype and partially improve the clinical course of inherited glutamine synthetase deficiency [1][2]. In one case study, treatment was begun with L-glutamine and nicotinamide, resulting in biochemical improvements at 6 months of follow-up [3].
Treatment Protocol
The primary focus of treatment for congenital glutamine deficiency is to manage symptoms and improve quality of life. A therapeutic trial consisting of enteral and parenteral glutamine supplementation has been described as a potential treatment option [4]. However, more research is needed to establish the efficacy and safety of this approach.
Current Status
While there is no established treatment for congenital glutamine deficiency, ongoing research may lead to the development of effective therapeutic strategies. In the meantime, glutamine supplementation remains a promising area of investigation.
References:
[1] Häberle J (2012) Supplementation of glutamine is a safe therapeutic option for inherited GS deficiency since it corrects the peripheral biochemical phenotype and partially also ... [5]
[2] Chaudhry FA (2012) Supplementation with glutamine can possibly prevent the development of mental retardation, multiple organ failure and death in defects of glutamine synthetase. [6]
[3] Ünal Ö (2019) Treatment was begun with L-glutamine and nicotinamide and biochemical improvements have been observed at 6 months of follow-up. The outcome of this patient may ... [7]
[4] There is no established treatment for this condition.Here, we describe a therapeutic trial consisting of enteral and parenteral glutamine supplementation in a ... [8]
[5] Häberle J (2012) Supplementation of glutamine is a safe therapeutic option for inherited GS deficiency since it corrects the peripheral biochemical phenotype and partially also ... [9]
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Differential Diagnosis
Differential Diagnosis of Congenital Glutamine Deficiency
Congenital glutamine synthetase (GS) deficiency is a rare genetic disorder characterized by decreased levels of glutamine in body fluids, associated with chronic hyperammonemia. When diagnosing this condition, it's essential to consider other disorders that may present with similar symptoms.
Urea Cycle Disorders (UCDs)
UCDs result from inherited deficiencies in any one of the six enzymes or two transporters of the urea cycle pathway [4]. These disorders can lead to elevated ammonia levels, which is a hallmark of GS deficiency. However, UCDs are more common and have distinct clinical presentations.
Other Congenital Disorders
Congenital disorders such as VACTERL association, characterized by vertebral, cardiac, renal, limb malformations, may present with similar symptoms [15]. In these cases, identification of mild facial dysmorphism may guide differential diagnoses.
Key Features to Consider
When considering a diagnosis of congenital glutamine synthetase deficiency, the following features should be taken into account:
- Decreased levels of glutamine in plasma, urine or cerebrospinal fluid (CSF) [8]
- Chronic hyperammonemia
- Congenital malformations such as VACTERL association
References
[4] by NA Mew · 2017 · Cited by 91 — Urea cycle disorders (UCDs) result from inherited deficiencies in any one of the six enzymes or two transporters of the urea cycle pathway. [8] Diagnosis of GS deficiency depends on the cognition of decreased levels of glutamine in plasma, urine or cerebrospinal fluid (CSF) posing a particular challenge ... [15] Rather, identification of mild facial dysmorphism may guide differential diagnoses of CNDD in unresolved cases of vertebral, cardiac, renal, and limb malformations, such as VACTERL association , especially for individuals presenting with disproportionate growth or neurodevelopmental disorders.
Additional Differential Diagnoses
- Urea Cycle Disorders (UCDs)
- Other Congenital Disorders (e.g., VACTERL association)
- Congenital glutamine synthetase deficiency
Additional Information
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- An amino acid metabolic disorder characterized by onset at birth of encephalopathy, lack of normal development, seizures, and hypotonia associated with variable brain abnormalities that has_material_basis_in homozygous mutation in the GLUL gene on chromosome 1q25.3.
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