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organic acidemia

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Description

What is Organic Acidemia?

Organic acidemias, also known as organic acidurias, are a group of rare genetic disorders that affect the body's ability to break down certain amino acids and other organic compounds. This leads to the accumulation of toxic substances in the body, causing a range of symptoms and complications.

Characteristics of Organic Acidemia

  • Metabolic disorder: Organic acidemias are inherited metabolic disorders that disrupt normal amino acid metabolism.
  • Excessive excretion: The excessive excretion of non-amino organic acids in the urine is a hallmark of these disorders.
  • Accumulation of toxic substances: The accumulation of toxic substances in the body can lead to various symptoms and complications.

Symptoms of Organic Acidemia

  • Ketosis: A condition characterized by high levels of ketones in the blood.
  • Metabolic acidosis: A condition where the body's pH level becomes too acidic.
  • Vomiting, diarrhea, lethargy, weak muscle tone, and low blood sugar: These symptoms can occur due to the accumulation of toxic substances in the body.

Causes and Consequences

  • Genetic defects: Organic acidemias are caused by genetic defects that affect the enzymes or cofactors necessary for proper amino acid metabolism.
  • Accumulation of toxins: If left untreated, organic acidemias can lead to severe complications, including breathing problems, convulsions, and even death.

References

  • [1] Organic acidemia is a term used to classify a group of metabolic disorders which disrupt normal amino acid metabolism, particularly branched-chain amino acid metabolism. (Source: 2)
  • The symptoms are episodes of vomiting, diarrhea, lethargy, weak muscle tone, and low blood sugar. If untreated, it can lead to breathing problems, convulsions, ... (Source: 9)
  • Organic acidemias (OAs) are inherited disorders of protein metabolism. Most are autosomal recessive disorders caused by a deficiency of enzymes or cofactors. (Source: 8)

Note: The numbers in square brackets refer to the search results provided in the context.

Additional Characteristics

  • Organic acidemias
  • Metabolic disorder
  • Group of rare genetic disorders
  • Affect body's ability to break down certain amino acids and other organic compounds
  • Excessive excretion of non-amino organic acids in the urine
  • Accumulation of toxic substances in the body
  • Ketosis, metabolic acidosis, vomiting, diarrhea, lethargy, weak muscle tone, low blood sugar
  • Genetic defects that affect enzymes or cofactors necessary for proper amino acid metabolism
  • Severe complications: breathing problems, convulsions, death

Signs and Symptoms

Common Signs and Symptoms of Organic Acidemia

Organic acidemias are a group of metabolic disorders that can cause a range of symptoms, which can vary depending on the specific type of disorder. Here are some common signs and symptoms associated with organic acidemias:

  • Vomiting: Vomiting is a frequent symptom in many cases of organic acidemia, often accompanied by dehydration (dry mouth and lips, rapid heartbeat) [3].
  • Dehydration: Dehydration can occur due to vomiting, diarrhea, or excessive sweating [2].
  • Respiratory distress: Some individuals may experience respiratory distress, which can lead to coma or death if left untreated [3].
  • Muscle weakness: Muscle weakness is another common symptom, which can progress to more severe conditions like coma or death [3].
  • Drowsiness and fussiness: Infants and young children with organic acidemia

Diagnostic Tests

Organic acidemias are a group of metabolic disorders that can be diagnosed through various diagnostic tests.

Newborn Screening

Newborn screening for organic acid disorders is performed using tandem mass spectrometry to detect elevated acylcarnitine levels [2]. This test is typically done on a few drops of blood from a heel prick, which are placed on a special card called a Guthrie card [5].

Laboratory Tests

The diagnosis of organic acidemias often involves laboratory tests that measure the levels of specific metabolites in the blood or urine. These tests can include:

  • Tandem mass spectrometry to detect elevated acylcarnitine levels
  • Gas chromatography-mass spectrometry (GC-MS) to detect abnormal metabolites
  • Liquid chromatography-tandem mass spectrometry (LC-MS/MS) to detect specific organic acids [1]

Genetic Testing

In some cases, genetic testing may be necessary to confirm the diagnosis of an organic acidemia. This can involve analyzing genes that are associated with the disorder, such as the Invitae Organic Acidemias Panel [3].

Clinical Presentation and Diagnosis

The clinical presentation and diagnosis of organic acidemias can vary depending on the specific disorder. However, common symptoms include:

  • Developmental delays or regression
  • Seizures
  • Muscle weakness or hypotonia
  • Respiratory problems
  • Abnormal odor or "sweat" [6]

It's worth noting that early diagnosis and treatment of organic acidemias can significantly improve outcomes for affected individuals.

References: [1] by M Wajner · 2019 · Cited by 15 — It should be emphasized that out of 18 children with urea cycle defects, 15 were diagnosed by LC/MS/MS, whereas only 3 by reverse phase HPLC. [2] In Illinois, newborn screening for organic acid disorders is performed using tandem mass spectrometry to detect elevated acylcarnitine levels. [3] The Invitae Organic Acidemias Panel analyzes genes that are associated with the organic acidemias. This panel may be appropriate for patients who present with ... [5] A few drops of blood from a heel prick are placed on a special card, called a Guthrie card. This card with your baby's information is mailed to a special state ... [6] by OA Bodamer · Cited by 2 — This topic gives an overview of the clinical presentation, diagnosis, and management of organic acidemias. The more prevalent organic ...

Additional Diagnostic Tests

  • Newborn Screening (tandem mass spectrometry)
  • MS)
  • Genetic Testing (Invitae Organic Acidemias Panel)

Treatment

Treatment Options for Organic Acidemia

Organic acidemias are a group of rare genetic disorders that affect the body's ability to break down certain amino acids, leading to the accumulation of toxic substances in the body. The treatment of organic acidemia typically involves a combination of medications and dietary changes.

  • Medications: Several medications have been used to treat organic acidemia, including:
    • L-carnitine: This medication is given to compensate for secondary carnitine deficiency caused by urinary loss of carnitine-bound to organic acids [7].
    • Vitamin B12 (as hydroxocobalamin): This vitamin is used in the treatment of methylmalonic acidemia, a type of organic acidemia [4].
    • Valproic acid: This medication has been used in the treatment of some types of organic acidemia, although its use is not universally accepted [3].
  • Dietary Changes: Individuals with organic acidemia often require dietary changes to manage their condition. These may include:
    • Low protein intake: A low protein diet can help reduce the load of toxic metabolites in the body [9].
    • Specific food formulas (medical foods): Some individuals with organic acidemia may require specific medical foods to provide essential nutrients and support the synthesis of amino acids [8].

Pipeline Development

There are currently five drugs in development for the treatment of organic acidemia, although none have been approved by regulatory authorities yet [5]. These medications aim to address various aspects of the disease, including the accumulation of toxic substances and the management of symptoms.

Additional Treatments

Other treatments that may be used in conjunction with medication include: + Intermittent antibiotics: These may be used to manage secondary infections associated with organic acidemia [4]. + Thiamine-responsive MSUD treatment: This involves using thiamine to treat a specific type of organic acidemia known as maple syrup urine disease (MSUD) [3].

References:

[1] KA Chapman et al. (2012) - Cited by 129 [3] Various authors (no date) - Cited by 3 [4] OA Bodamer et al. (no date) - Cited by 2 [5] Organic Acidemia pipeline development (2024) [7] MR Baumgartner et al. (2014) - Cited by 697 [8] Apr 17, 2020 - Individuals with this condition have to follow a specific diet including a low protein intake and specific food formulas (medical foods). [9] J Ramsay et al. (2018) - Cited by 54

Recommended Medications

  • L-carnitine
  • Vitamin B12 (as hydroxocobalamin)
  • Intermittent antibiotics
  • Thiamine-responsive MSUD treatment
  • valproic acid

💊 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 Organic Acidemia

Organic acidemias are a group of metabolic disorders that can be challenging to diagnose due to their diverse clinical presentations. The differential diagnosis of organic acidemia involves considering various conditions that may present with similar symptoms.

Common Differential Diagnoses

  • Hypoxic-Ischemic Encephalopathy (HIE): HIE is a condition caused by lack of oxygen and blood flow to the brain, which can lead to seizures, coma, and even death. It is often considered in the differential diagnosis of organic acidemia due to its similar presentation.
  • Mucopolysaccharidosis: This is a group of genetic disorders that affect the body's ability to break down and recycle sugar molecules. Symptoms include developmental delays, skeletal abnormalities, and respiratory problems.
  • Middle Fossa Arachnoid Cyst: A rare condition characterized by a fluid-filled cyst in the middle fossa of the brain, which can cause seizures, headaches, and other neurological symptoms.
  • Leigh Disease: A rare genetic disorder that affects the nervous system, causing progressive weakness, loss of coordination, and cognitive decline.

Other Differential Diagnoses

  • Hypertrophic or Dilated Cardiomyopathy: A condition affecting the heart muscle, leading to abnormal heart function and potentially life-threatening complications.
  • Hepatomegaly: Enlargement of the liver, which can be caused by various conditions including metabolic disorders, infections, and cancer.
  • Multicystic Kidney Disease: A rare genetic disorder that affects the kidneys, causing multiple cysts to form on the kidney surface.

Clinical Presentation

The clinical presentation of organic acidemia can vary widely depending on the specific disorder. Common symptoms include:

  • Apnea or respiratory distress (tachypnea)
  • Persistent or recurrent vomiting
  • Hypoglycemia
  • Abnormal serum hepatic enzyme levels
  • Neutropenia

These symptoms are often non-specific and can be seen in various other conditions, making differential diagnosis crucial.

References

  1. [3] - According to the present study, the most presented symptoms were apnea or respiratory distress (tachypnea) (65.7%), persistent or recurrent vomiting (40%) and ...
  2. [5] - Some differential agnosis of MRI findings in organic academia is consist of: HIE, mucopolysacaridosis, middle fossa arachnoid cyst, leighdisease,.
  3. [6] - Neuroimaging findings have a key role in suggesting the correct diagnosis of organic acidemias and aminoacidopathies, narrowing the differential ...
  4. [8] - Classification of IEM · facial dysmorphism · cataracts, retinopathy · structural brain anomalies · hypertrophic or dilated cardiomyopathy · hepatomegaly · multicystic ...

Additional Differential Diagnoses

Additional Information

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