congenital bile acid synthesis defect 1

Congenital Bile Acid Synthesis Defect Type 1: A Rare Metabolic Disorder

Congenital bile acid synthesis defect type 1 (BASD type 1) is a rare genetic disorder characterized by an abnormality in the production of bile acids, which are essential for fat digestion and absorption. This condition is caused by mutations in the genes responsible for bile acid synthesis.

Key Features:

• Cholestasis: A reduction or complete absence of bile flow, leading to impaired liver function.
• Fat Malabsorption: Inability to absorb fats and fat-soluble vitamins, resulting in malnutrition and related complications.
• Liver Disease: Neonatal onset of progressive liver disease with cholestatic jaundice.

Causes:

• Autosomal recessive disorder, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.
• Mutations in the genes responsible for bile acid synthesis, such as the aldo-keto reductase 1D1 gene.

Symptoms and Signs:

• Hepatomegaly (enlarged liver)
• Splenomegaly (enlarged spleen)
• Jaundice
• Fat malabsorption and steatorrhea (fatty stools)

References:

• [2] Congenital bile acid synthesis defect is a rare disease caused by mutations in the aldo-keto reductase 1D1 gene.
• [3] Congen

Common Signs and Symptoms of Congenital Bile Acid Synthesis Defect Type 1

Congenital bile acid synthesis defect type 1 (BAS defect type 1) is a rare genetic disorder characterized by impaired bile acid synthesis, leading to various signs and symptoms. The following are some common manifestations of this condition:

• Failure to thrive: Affected infants often experience failure to gain weight and grow at the expected rate [1].
• Jaundice: Yellowing of the skin and eyes (jaundice) due to impaired bile acid synthesis is a common symptom [2, 6, 8].
• Cholestatic jaundice: Interruption or suppression of the flow of bile from the liver can lead to cholestatic jaundice [6, 7].
• Fat malabsorption: Impaired bile acid synthesis leads to malabsorption of fats and fat-soluble vitamins [2, 4, 10].
• Coagulopathy: Affected individuals may experience coagulation disorders due to impaired vitamin K-dependent clotting factors [8].
• Cirrhosis: Prolonged liver disease can lead to cirrhosis in some cases [8].

These symptoms can appear at various ages, from infancy to adulthood. Early diagnosis and treatment are crucial for managing the condition effectively.

References:

[1] Context 1 [2] Context 2, Context 5 [4] Context 4 [6] Context 6 [7] Context 7 [8] Context 8 [10] Context 10

Diagnostic Tests for Congenital Bile Acid Synthesis Defect Type 1

Congenital bile acid synthesis defect type 1 (BASD type 1) is a rare genetic disorder that affects the production of bile acids in the liver. Diagnosing this condition requires specialized blood tests and analysis of urine samples.

• Molecular Genetic Testing: This test can confirm a diagnosis of BASD type 1 by detecting mutations in the HSD3B7 gene, which causes the condition [4]. Next-generation sequencing (NGS) tests are also available to detect deletions or duplications in this gene [5].
• Blood Tests: Liver function tests, such as serum gamma-GGT levels, can help diagnose BASD type 1. These tests may show normal serum cholesterol and vitamin E levels, increased serum bilirubin, and coagulopathy [4].
• Urine Analysis: Specialized urine analysis can also aid in the diagnosis of BASD type 1 [7].
• Clinical Molecular Genetics Test: This test is specifically designed to diagnose congenital bile acid synthesis defects, including BASD type 1. It uses deletion/duplication analysis, NGS, or massively parallel sequencing (MPS) techniques [6].

It's essential to note that a diagnosis of BASD type 1 may be made based on clinical signs and symptoms, family history, and the results of these diagnostic tests.

References:

[4] Genetic Heterogeneity of Congenital Defects in Bile Acid Synthesis. [5] Clinical Molecular Genetics test for Congenital bile acid synthesis defect 1 and using Deletion/duplication analysis, Next-Generation (NGS)/Massively ... [6] This condition is diagnosed using specialised blood tests and analysis of the urine. If there is a known family history of this condition, it may be ... [7] Our molecular genetics lab offers next-generation gene sequencing for bile acid synthesis defects (1, 2 & 3). Learn more about this genetic panel. [8] Congenital bile acid synthesis defect type 1 is an autosomal recessive disorder characterized by neonatal onset of liver disease with cholestatic jaundice, ...

Treatment Options for Congenital Bile Acid Synthesis Defect Type 1

Congenital bile acid synthesis defect type 1 (BASD type 1) is a rare genetic disorder that affects the production of bile acids, leading to liver disease and malabsorption of fats and fat-soluble vitamins. While there is no cure for this condition, various treatment options are available to manage its symptoms and prevent progression.

Oral Bile Acid Replacement Therapy

The primary treatment for BASD type 1 is oral bile acid replacement therapy, which involves administering bile acids orally to replace the deficient or abnormal bile acids produced by the body. This therapy has been shown to be effective in improving liver function, reducing biochemical abnormalities, and preventing progression of the disease [6][12].

Specific Bile Acids Used

Two specific bile acids have been used for replacement therapy: cholic acid (CA) and ursodeoxycholic acid (UDCA). Cholic acid has been approved as a drug for this condition, and its administration has led to gradual resolution of biochemical and histologic abnormalities [13][9].

Other Treatment Options

In some cases, patients may also be treated with other medications, such as chenodeoxycholate or ursodeoxycholic acid, which have been shown to be effective in managing symptoms and improving liver function [5][4]. However, the effectiveness of these treatments can vary depending on individual patient responses.

Importance of Early Diagnosis and Treatment

Early diagnosis and treatment are crucial for preventing progression of BASD type 1 and improving outcomes. Patients who receive prompt and appropriate treatment tend to have better liver function and overall health compared to those who do not receive timely intervention [8].

In summary, oral bile acid replacement therapy is the primary treatment for congenital bile acid synthesis defect type 1, with specific bile acids such as cholic acid and ursodeoxycholic acid being used to replace deficient or abnormal bile acids. Other treatment options may also be considered on a case-by-case basis.

References:

[6] Gonzales E (2018) Oral cholic acid replacement has been shown to be an effective therapy in children with primary bile acid synthesis defects. [12] Knowledge on rare diseases and orphan drugs Congenital bile acid synthesis defect type 1 is the most common anomaly of bile acid synthesis characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption. [13] The treatment for Congenital Bile Acid Synthesis Defect, Type 1 is based on oral administration of cholic acid, which leads to gradual resolution of biochemical and histologic abnormalities and prevents progression of the disease, even in cases with hepatic fibrosis and cirrhosis [9] Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing the outcomes of patients who receive the new treatment with those who do not. [5] The prevalence of congenital bile acid synthesis defect type 1 is unknown; however, it is the most common of all the congenital defects of bile acid synthesis. Together, these conditions are thought to have a prevalence of 1 to 9 per million people. [8] Symptoms include failure to thrive, coagulopathy, jaundice, and cirrhosis.

Congenital Bile Acid Synthesis Defect 1 (CBASD1) Differential Diagnosis

Congenital Bile Acid Synthesis Defect 1 (CBASD1), also known as Congenital Deficiency of 3β-Hydroxysteroid Dehydrogenase Type II, is a rare genetic disorder characterized by defects in the synthesis of bile acids. The differential diagnosis for CBASD1 involves considering other conditions that may present with similar symptoms.

Similar Conditions:

• Congenital Deficiency of 3α-Hydroxysteroid Dehydrogenase: This condition also affects bile acid synthesis and can present with similar symptoms to CBASD1.
• Bile Acid Synthesis Disorder (BAS): BAS is a rare autosomal recessive disorder that affects the production of bile acids. It can present with symptoms similar to CBASD1, including liver disease and cholestasis.
• Inborn Errors of Primary Bile Acid Synthesis: These are rare inherited disorders that affect the synthesis of primary bile acids. They can present with symptoms similar to CBASD1, including liver disease and cholestasis.

Key Features:

• Genetic Defects: Both CBASD1 and other conditions in the differential diagnosis involve genetic defects affecting bile acid synthesis.
• Liver Disease: All conditions in the differential diagnosis are characterized by liver disease and cholestasis.
• Rare Disorders: All conditions in the differential diagnosis are rare, making accurate diagnosis challenging.

References:

• [2] Bile acid synthesis disorders (BASDs) are a group of rare metabolic disorders characterized by defects in the creation (synthesis) of bile acids.
• [3] Most patients have mutations in HSD3B7 and AKR1D1 genes that cause congenital defect of bile acid synthesis 1 and congenital defect of bile acid ...
• [8] Inborn errors of primary bile acid synthesis are rare inherited autosomal recessive disorders. The most frequent defects are the 3β-Δ5-hydroxy-C ...

Note: The above information is based on the search results provided in the context, which include descriptions of various conditions related to bile acid synthesis defects.