Metabolic disorder: Difference between revisions
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{{Infobox medical condition | |||
| name = Metabolic disorder | |||
| image = [[File:Ragged_red_fibres_-_gtc_-_very_high_mag.jpg|alt=Ragged red fibers seen under a microscope]] | |||
| caption = Ragged red fibers seen under a microscope, often associated with mitochondrial disorders | |||
| field = [[Endocrinology]] | |||
| symptoms = Varies widely depending on the specific disorder; may include fatigue, muscle weakness, developmental delay | |||
| complications = [[Organ failure]], [[neurological disorders]], [[cardiovascular disease]] | |||
| onset = Can be [[congenital]] or acquired | |||
| duration = Chronic | |||
| causes = Genetic mutations, [[enzyme]] deficiencies, [[hormonal imbalance]] | |||
| risks = Family history, certain [[genetic syndromes]], [[environmental factors]] | |||
| diagnosis = [[Blood test]], [[urine test]], [[genetic testing]], [[biopsy]] | |||
| differential = [[Nutritional deficiency]], [[endocrine disorders]], [[chronic fatigue syndrome]] | |||
| prevention = Genetic counseling, lifestyle modifications | |||
| treatment = Dietary management, enzyme replacement therapy, medications | |||
| prognosis = Varies; some conditions are manageable, others may be life-threatening | |||
| frequency = Varies by specific disorder; some are rare, others more common | |||
}} | |||
== Metabolic Disorder == | == Metabolic Disorder == | ||
[[File:Metabolic pathways tr.png|left|thumb|500px|Illustration of metabolic pathways affected in metabolic disorders.]] | |||
[[File:Metabolic pathways tr.png|thumb | |||
A '''Metabolic Disorder''' is a medical condition characterized by the disruption of normal metabolic processes, often due to the absence or deficiency of an enzyme. These disorders can affect various metabolic pathways, leading to a wide range of health issues. | A '''Metabolic Disorder''' is a medical condition characterized by the disruption of normal metabolic processes, often due to the absence or deficiency of an enzyme. These disorders can affect various metabolic pathways, leading to a wide range of health issues. | ||
== Causes == | == Causes == | ||
Metabolic disorders are often caused by genetic mutations that lead to enzyme deficiencies. These enzymes are crucial for various biochemical reactions in the body. | Metabolic disorders are often caused by genetic mutations that lead to enzyme deficiencies. These enzymes are crucial for various biochemical reactions in the body. | ||
== Types of Metabolic Disorders == | == Types of Metabolic Disorders == | ||
Metabolic disorders can be broadly classified into several categories: | Metabolic disorders can be broadly classified into several categories: | ||
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* Disorders of Carbohydrate Metabolism: Such as glycogen storage diseases. | * Disorders of Carbohydrate Metabolism: Such as glycogen storage diseases. | ||
* Amino Acid Metabolism Disorders: Such as phenylketonuria (PKU). | * Amino Acid Metabolism Disorders: Such as phenylketonuria (PKU). | ||
== Symptoms == | == Symptoms == | ||
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title='''{{PAGENAME}}''' | title='''{{PAGENAME}}''' | ||
movie_url=http://www.youtube.com/v/WjyQTmJBXFg | movie_url=http://www.youtube.com/v/WjyQTmJBXFg | ||
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Symptoms vary widely but may include: | Symptoms vary widely but may include: | ||
* Failure to thrive in infants | * Failure to thrive in infants | ||
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* Organ dysfunction | * Organ dysfunction | ||
* Neurological symptoms in severe cases | * Neurological symptoms in severe cases | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis often involves: | Diagnosis often involves: | ||
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* Genetic testing | * Genetic testing | ||
* Newborn screening for early detection | * Newborn screening for early detection | ||
== Treatment == | == Treatment == | ||
Treatment depends on the specific disorder and may include: | Treatment depends on the specific disorder and may include: | ||
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* Enzyme replacement therapy | * Enzyme replacement therapy | ||
* Medications to manage symptoms or complications | * Medications to manage symptoms or complications | ||
== External Links == | == External Links == | ||
* [https://www.ninds.nih.gov/Disorders/All-Disorders/Metabolic-Disorders-Information-Page National Institute of Neurological Disorders and Stroke - Metabolic Disorders] | * [https://www.ninds.nih.gov/Disorders/All-Disorders/Metabolic-Disorders-Information-Page National Institute of Neurological Disorders and Stroke - Metabolic Disorders] | ||
* [https://www.mayoclinic.org/diseases-conditions/metabolic-syndrome/symptoms-causes/syc-20351916 Mayo Clinic - Metabolic Syndrome] | * [https://www.mayoclinic.org/diseases-conditions/metabolic-syndrome/symptoms-causes/syc-20351916 Mayo Clinic - Metabolic Syndrome] | ||
[[Category:Metabolic Disorders]] | [[Category:Metabolic Disorders]] | ||
[[Category:Genetic Diseases]] | [[Category:Genetic Diseases]] | ||
[[Category:Endocrinology]] | [[Category:Endocrinology]] | ||
{{stub}} | {{stub}} | ||
Revision as of 03:53, 8 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Metabolic disorder | |
|---|---|
| |
| Synonyms | N/A |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Varies widely depending on the specific disorder; may include fatigue, muscle weakness, developmental delay |
| Complications | Organ failure, neurological disorders, cardiovascular disease |
| Onset | Can be congenital or acquired |
| Duration | Chronic |
| Types | N/A |
| Causes | Genetic mutations, enzyme deficiencies, hormonal imbalance |
| Risks | Family history, certain genetic syndromes, environmental factors |
| Diagnosis | Blood test, urine test, genetic testing, biopsy |
| Differential diagnosis | Nutritional deficiency, endocrine disorders, chronic fatigue syndrome |
| Prevention | Genetic counseling, lifestyle modifications |
| Treatment | Dietary management, enzyme replacement therapy, medications |
| Medication | N/A |
| Prognosis | Varies; some conditions are manageable, others may be life-threatening |
| Frequency | Varies by specific disorder; some are rare, others more common |
| Deaths | N/A |
Metabolic Disorder
A Metabolic Disorder is a medical condition characterized by the disruption of normal metabolic processes, often due to the absence or deficiency of an enzyme. These disorders can affect various metabolic pathways, leading to a wide range of health issues.
Causes
Metabolic disorders are often caused by genetic mutations that lead to enzyme deficiencies. These enzymes are crucial for various biochemical reactions in the body.
Types of Metabolic Disorders
Metabolic disorders can be broadly classified into several categories:
- Inborn Errors of Metabolism: Genetic disorders present from birth, affecting metabolism.
- Diabetes Mellitus: Disorders of insulin production or action.
- Lipid Metabolism Disorders: Affecting the breakdown or storage of fats.
- Disorders of Carbohydrate Metabolism: Such as glycogen storage diseases.
- Amino Acid Metabolism Disorders: Such as phenylketonuria (PKU).
Symptoms
Symptoms vary widely but may include:
- Failure to thrive in infants
- Developmental delays
- Organ dysfunction
- Neurological symptoms in severe cases
Diagnosis
Diagnosis often involves:
- Blood tests for enzyme levels or metabolites
- Genetic testing
- Newborn screening for early detection
Treatment
Treatment depends on the specific disorder and may include:
- Dietary management
- Enzyme replacement therapy
- Medications to manage symptoms or complications
