congenital bile acid synthesis defect 2

Congenital Bile Acid Synthesis Defect Type 2 (CBASD2) Overview

Congenital bile acid synthesis defect type 2, also known as CBASD2, is a rare genetic disorder characterized by severe cholestatic liver disease, malabsorption of fat and fat-soluble vitamins [1]. This condition impairs the production and release of bile acids, leading to a range of symptoms and complications.

Key Features:

• Severe cholestasis, which impairs the production and release of bile acids
• Malabsorption of fat and fat-soluble vitamins (A, D, E, and K)
• Progressive liver disease of neonatal onset [9]
• Rare genetic disorder caused by mutations in the aldo-keto reductase 1D1 gene [4]

Symptoms and Complications:

• Severe cholestatic liver disease
• Malabsorption of fat and fat-soluble vitamins, leading to:
  • Fat malabsorption
  • Vitamin deficiencies (A, D, E, and K)
• Progressive liver disease

References:

[1] Congenital bile acid synthesis defect type 2 is a disorder characterized by cholestasis, a condition that impairs the production and release of a digestive... [2] [4] Congenital bile acid synthesis defect (BASD) is a rare disease caused by mutations in the aldo-keto reductase 1D1 gene. [4] [9] Congenital bile acid synthesis defect type 2 (CBAS2) is a progressive liver disease of neonatal onset characterized by cholestasis... [9]

Note: The information provided is based on the search results and may not be an exhaustive list of symptoms or features.

Common Signs and Symptoms

The signs and symptoms of congenital bile acid synthesis defect type 2 (BASD type 2) often develop in infancy, as the body struggles to produce essential bile acids. Some common symptoms include:

• Jaundice: Yellowing of the skin and eyes due to impaired bile flow and a buildup of partially formed bile [10].
• Failure to Thrive: Affected infants usually have a failure to gain weight and grow at the expected rate, indicating malnutrition and poor overall health [10].
• Vitamin Deficiencies: People with BASD type 2 may experience deficiencies in fat-soluble vitamins such as A, D, E, and K due to impaired bile acid synthesis [4][5].
• Enlarged Liver or Spleen: In some cases, the liver or spleen may become enlarged due to the accumulation of abnormal bile acids [9].

Other Possible Symptoms

In addition to these common symptoms, other possible signs of BASD type 2 include:

• Poor Growth and Malnutrition: Affected individuals may experience poor growth and malnutrition due to impaired nutrient absorption [8].
• Cholestasis: The condition can cause cholestasis, a condition that impairs the production and release of bile from liver cells [1][2].

Important Note

It's essential to consult with a healthcare professional for an accurate diagnosis and treatment plan. These symptoms may be indicative of other conditions as well, so proper medical evaluation is crucial.

References:

[1] Congenital bile acid synthesis defect type 2 is a disorder characterized by cholestasis... (Search Result 1) [2] Congenital bile acid synthesis defect type 2 is a disorder characterized by cholestasis... (Search Result 2) [4] People with congenital bile acid synthesis defect type 2 cannot produce (synthesize) bile acids, which are a component of bile that stimulate bile flow and help it absorb fats and fat-soluble vitamins. As a result, an abnormal form of bile is produced. The signs and symptoms of congenital bile acid synthesis defect type 2 often develop in infancy. (Search Result 4) [5] People with congenital bile acid synthesis defect type 2 cannot produce (synthesize) bile acids, which are a component of bile that stimulate bile flow and help it absorb fats and fat-soluble vitamins. As a result, an abnormal form of bile is produced. The signs and symptoms of congenital bile acid synthesis defect type 2 often develop in infancy. (Search Result 5) [8] Symptoms · Jaundice, or yellowing of the skin and eyes · Poor growth · Vitamin deficiencies (a lack of vitamins A, D, K, or E) · Enlarged liver or spleen · ... (Search Result 9) [10] The signs and symptoms of congenital bile acid synthesis defect type 2 often develop in infancy. Affected infants usually have a failure to gain weight and grow at the expected rate (failure to thrive) and yellowing of the skin and eyes (jaundice) due to impaired bile flow and a buildup of partially formed bile. (Search Result 10)

Diagnostic Tests for Congenital Bile Acid Synthesis Defect Type 2

Congenital bile acid synthesis defect type 2 is a rare genetic disorder that impairs the production and release of bile from liver cells, leading to malabsorption of fats and fat-soluble vitamins. To diagnose this condition, several diagnostic tests can be performed.

• Laboratory Tests: Abnormal plasma levels of ammonia, bilirubin, lactic dehydrogenase, and alkaline phosphatase are indicative of congenital bile acid synthesis defect type 2 [4]. These laboratory test results reveal the severity of the disorder.
• Genetic Testing: The AKR1D1 gene is responsible for producing an enzyme called 3-oxo-5-beta(β)-steroid 4-dehydrogenase, which is impaired in individuals with congenital bile acid synthesis defect type 2 [1]. Genetic testing can identify mutations in the AKR1D1 gene that cause this disorder.
• Next-generation Gene Sequencing: This test provides full coverage of all coding exons of the AKR1D1 gene plus 10 bases of flanking noncoding DNA in all available transcripts, making it a comprehensive diagnostic tool for congenital bile acid synthesis defect type 2 [6].
• Blood Tests: Blood tests can be used to measure the levels of various enzymes and metabolites that are affected by this disorder. These include ammonia, bilirubin, lactic dehydrogenase, and alkaline phosphatase.

References:

[1] Mutations in the AKR1D1 gene cause congenital bile acid synthesis defect type 2. [4] Laboratory test results reveal abnormal plasma levels of ammonia, bilirubin, lactic dehydrogenase, and alkaline phosphatase. [6] This test provides full coverage of all coding exons of the AKR1D1 gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other...

Treatment Options for Congenital Bile Acid Synthesis Defect Type 2

Congenital bile acid synthesis defect type 2 is a disorder characterized by cholestasis, which impairs the production and release of a digestive fluid called bile. The treatment for this condition focuses on replacing the missing bile acids to restore normal liver function.

• Bile Acid Replacement Therapy: This is the primary treatment approach for congenital bile acid synthesis defects, including type 2. Bile acid replacement therapy involves administering oral bile acids to replace the deficient or abnormal bile acids produced by the liver.
• Ursodeoxycholic Acid (UDCA): UDCA has been shown to be an effective and affordable treatment option for some cases of congenital bile acid synthesis defects, including type 3. However, its effectiveness in treating type 2 is not well-documented.

Other Treatment Options

While there are no specific therapies available for primary Δ4-3-oxosteroid 5β-reductase deficiency (the enzyme defect underlying type 2), researchers have explored other treatment approaches to manage the condition. These include:

• Cholic Acid Therapy: Cholic acid therapy has been shown to stimulate bile flow and suppress synthesis of atypical bile acids, which can help alleviate symptoms.
• Supportive Care: Supportive care measures, such as dietary modifications and monitoring liver function, may also be necessary to manage the condition.

References

• [4] Congenital bile acid synthesis defect type 2 is a disorder characterized by cholestasis, a condition that impairs the production and release of a digestive fluid called bile.
• [10] Cholic acid therapy stimulates bile flow and suppresses synthesis of atypical bile acids and production of toxic intermediates via the bile acid pathway.
• [9] While there are no specific therapies available for primary Δ4-3-oxosteroid 5β-reductase deficiency, researchers have explored other treatment approaches to manage the condition.

Differential Diagnoses for Congenital Bile Acid Synthesis Defect Type 2

Congenital bile acid synthesis defect type 2 (BAS defect type 2) is a rare metabolic disorder characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins. When diagnosing this condition, it's essential to consider the following differential diagnoses:

• Progressive Familial Intrahepatic Cholestasis (PFIC): This is a group of rare genetic disorders that cause progressive cholestasis, similar to BAS defect type 2.
• Diseases presenting with Neonatal Cholestasis: Certain conditions, such as biliary atresia and intrahepatic cholestasis, can present with similar symptoms to BAS defect type 2 in infants.
• Other Congenital Metabolic Disorders: Rare metabolic disorders, like other bile acid synthesis defects, can also be considered in the differential diagnosis.

According to [10], "Differential diagnoses include progressive familial intrahepatic cholestasis, diseases that present with neonatal cholestasis, which...". This highlights the importance of considering these conditions when diagnosing BAS defect type 2.

In addition, [6] notes that "differential diagnosis. Diseases that have a similar and fairly overlapping phenotype to that of congenital defects in bile acid synthesis..." This suggests that the differential diagnoses for BAS defect type 2 are not exhaustive and may include other rare metabolic disorders.

It's crucial to note that early disease diagnosis is critical for early treatment with bile acid replacement therapy, which can lead to an excellent chance for recovery [11]. Therefore, a comprehensive differential diagnosis is essential to ensure accurate diagnosis and timely treatment of congenital bile acid synthesis defect type 2.