congenital bile acid synthesis defect 4

Congenital Bile Acid Synthesis Defect Type 4 (BASD Type 4) Description

Congenital bile acid synthesis defect type 4, also known as BASD type 4, is a rare genetic disorder characterized by an anomaly in the synthesis of bile acids. This condition is associated with mild cholestatic liver disease, fat malabsorption, and/or neurological issues.

Key Features:

• Mild cholestatic liver disease
• Fat malabsorption
• Neurological issues (ranging from mild to severe)
• Elevated levels of certain bile acids in the blood

Causes: BASD type 4 is caused by mutations in the gene encoding alpha-methylacyl-CoA racemase (AMACR), which plays a crucial role in the synthesis of bile acids. This genetic defect leads to an impairment in the production of bile acids, resulting in the observed symptoms.

Clinical Presentation: The clinical presentation of BASD type 4 can vary significantly among individuals. Infants with this condition may present with severe fat and fat-soluble vitamin malabsorption, while others may experience milder symptoms. Early diagnosis is critical for initiating treatment and improving outcomes.

References:

• [1] ORDO
• [3] AHN Pham · 2022 · Cited by 2
• [10] Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease. ... Clinical description. The clinical presentation of this defect varies. Infants present with severe fat and fat-soluble vitamin ...
• [11] Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease. [from ORDO]

Note: The above description is based on the information provided in the search results within the context block.

Common Signs and Symptoms of Congenital Bile Acid Synthesis Defect Type 4

Congenital bile acid synthesis defect type 4 (BAS defect type 4) is a rare metabolic disorder characterized by mild cholestatic liver disease, fat malabsorption, and/or neurological issues. The symptoms can vary in severity and may start to appear at any time in life.

Common Symptoms:

• Jaundice (yellowing of the skin and eyes)
• Failure to gain weight and grow at the expected rate (failure to thrive)
• Yellowing of the skin and eyes (jaundice)
• Poor growth and malnutrition
• Neurological issues, such as developmental delays or coordination problems

Additional Symptoms:

• Itching and diarrhea may also occur in some cases.
• Over time, the difficulty with nutrient absorption can lead to problems with the skin, eyes, and bones.

These symptoms are based on information from various sources, including:

• [1] Congenital bile acid synthesis defect type 4 is an anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.
• [5] 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).
• [7] They manifest with jaundice, poor growth and malnutrition.

Diagnostic Tests for Congenital Bile Acid Synthesis Defect Type 4

The diagnostic tests for congenital bile acid synthesis defect type 4 (BAS defect type 4) are crucial in confirming the presence of this condition. Here are some of the diagnostic tests that may be used:

• Urine Mass Spectrometry: This test is used to analyze the levels and types of bile acids present in the urine, which can help identify abnormalities in bile acid synthesis [9].
• Genetic Testing: Genetic testing can be done to identify mutations in the AMACR gene, which is responsible for congenital bile acid synthesis defect type 4 [5]. This test can be performed on a blood sample or other tissues.
• Plasma Tests: Laboratory tests may reveal abnormal plasma levels of ammonia, bilirubin, lactic dehydrogenase, and alkaline phosphatase in individuals with BAS defect type 4 [13].
• Next-Generation Sequencing (NGS): NGS techniques can be used to identify the underlying genetic basis of congenital bile acid synthesis defects, including BAS defect type 4 [14].

It's worth noting that a diagnosis of BAS defect type 4 may involve a combination of these tests, and may also require consultation with a specialist in genetics or hepatology.

References:

[5] Congenital bile acid synthesis defect-4 (CBAS4) is caused by homozygous mutation in the gene encoding alpha-methylacyl-CoA racemase (AMACR; 604489) on chromosome 5p13. [9] The diagnosis of BASD is based on the analysis of the urine bile acids profile obtained through mass spectrometry and on the identification of ... [13] Laboratory test results reveal abnormal plasma levels of ammonia, bilirubin, lactic dehydrogenase, and alkaline phosphatase. See ... [14] Routine specific DNA testing for bile acid biosynthesis defects is not widely available, but the underlying genetic basis can be identified with next-generation sequencing techniques.

Treatment Options for Congenital Bile Acid Synthesis Defect Type 4

Congenital bile acid synthesis defect type 4 (BASD type 4) is a rare metabolic disorder characterized by mild cholestatic liver disease, fat malabsorption, and/or neurological disease. The primary treatment approach for BASD type 4 involves the administration of primary bile acid therapy, specifically with cholic acid.

• According to search result [12], treatment is based on primary bile acid therapy with cholic acid.
• Search result [9] states that treatment is based on oral administration of

Based on the context provided, here are some potential differential diagnoses for Congenital Bile Acid Synthesis Defect 4 (CBASD4):

1. Congenital Bile Acid Synthesis Defects Type 2: This is another type of congenital bile acid synthesis defect that can present with similar symptoms to CBASD4.
2. Biliary Atresia: A condition where the bile ducts are absent or blocked, leading to liver damage and jaundice.
3. Alagille Syndrome: A genetic disorder characterized by liver disease, heart problems, and other systemic issues.
4. Progressive Familial Intrahepatic Cholestasis (PFIC): A group of rare genetic disorders that cause progressive liver disease and cholestasis.
5. Byler Disease: A rare genetic disorder that affects the bile ducts and can lead to liver damage and jaundice.
6. Congenital Hepatic Fibrosis: A condition where there is excessive scarring in the liver, leading to liver dysfunction.
7. Alpha-1-Antitrypsin Deficiency: A genetic disorder that can cause liver disease and other systemic issues.

These conditions may present with similar symptoms to CBASD4, such as jaundice, hepatomegaly (enlarged liver), and cholestasis. However, the specific diagnosis of CBASD4 is typically made through genetic testing and biochemical analysis of bile acids.

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