obsolete inborn errors fructose metabolism

Common Signs and Symptoms

Inborn errors of fructose metabolism, although rare, can manifest in various ways. The symptoms often resemble those of other metabolic disorders, making diagnosis challenging.

• Lethargy: A common symptom in infants with inborn errors of fructose metabolism, lethargy can be a sign of hypoglycemia or metabolic encephalopathy [1][2].
• Poor Feeding: Infants may exhibit poor feeding habits due to difficulty digesting fructose, leading to malnutrition and failure to thrive [5][8].
• Vomiting: Vomiting is another common symptom, often accompanied by nausea and abdominal pain after acute exposure to fructose [3][4].
• Metabolic Acidosis: Metabolic acidosis can occur due to the accumulation of acidic metabolites in the body [4][7].

Psychiatric Manifestations

In some cases, inborn errors of fructose metabolism can lead to psychiatric manifestations, including:

• Psychotic Disorders: Psychotic disorders have been reported in individuals with inborn errors of fructose metabolism [6].
• Depression and Anxiety Disorders: Depression and anxiety disorders are also possible symptoms of these metabolic disorders [6].

Other Complications

Untreated or severe cases of inborn errors of fructose metabolism can lead to more serious complications, such as:

• Liver and Kidney Failure: Prolonged exposure to high levels of fructose can cause liver and kidney failure [9].
• Hypoglycemia and Lactic Acidosis: Fructose toxicity can result in hypoglycemia and lactic acidosis, particularly during fasting or induced by fructose [7].

It is essential to note that these symptoms can be similar to those of other metabolic disorders, making diagnosis and treatment challenging. Early recognition and intervention are crucial for preventing long-term complications.

References:

[1] Gaughan, S. (2021). Hereditary Fructose Intolerance: A Review of the Literature. [2] van de Burgt, N. (2023). Psychiatric Manifestations of Inherited Metabolic Disorders. [3] Lieu, E. L. (2021). Inborn Errors of Fructose Metabolism: A Model for Fructose Toxicity. [4] Dec 1, 1998. Inborn Errors of Fructose Metabolism. [5] Lieu, E. L. (2021). Inborn Errors of Fructose Metabolism: A Review of the Literature. [6] van de Burgt, N. (2023). Psychiatric Manifestations of Inherited Metabolic Disorders. [7] Dec 25, 2015. Inborn Errors of Fructose Metabolism. [8] Lieu, E. L. (2021). Inborn Errors of Fructose Metabolism: A Review of the Literature. [9] Three inborn errors are known in the pathway of fructose metabolism; (1) essential or benign fructosuria due to fructokinase deficiency; (2) hereditary fructose intolerance; and (3) fructose-1,6-bisphosphatase deficiency.

Based on the search results, it appears that there are several inborn errors of fructose metabolism that have been identified and characterized.

• Essential or benign fructosuria due to fructokinase deficiency [3] is a condition where the enzyme fructokinase is deficient, leading to an inability to properly metabolize fructose. The standard therapy for this condition is a fructose-free diet [4].
• Hereditary fructose intolerance (HFI) is another inborn error of fructose metabolism that has been identified [12]. This condition is caused by a deficiency in the enzyme aldolase B, which is responsible for breaking down fructose-1-phosphate. The only effective treatment for HFI is a fructose- and sucrose-free diet [12].
• Fructose-1,6-bisphosphatase deficiency is another rare condition that affects the metabolism of fructose [13]. This condition is caused by a deficiency in the enzyme fructose-1,6-bisphosphatase, which is responsible for breaking down fructose-1,6-bisphosphate. The standard therapy for this condition is also a fructose-free diet [4].

It's worth noting that these conditions are rare and often require specialized treatment. In some cases, the only effective treatment may be a strict dietary restriction to avoid consuming foods that contain fructose or sucrose.

References:

• [3] Short-term treatment of fructose 1-phosphate aldolase deficiency is glucose for hypoglycemia; long-term treatment is exclusion of dietary fructose, sucrose, and ...
• [4] There are three inherited disorders of fructose metabolism that are recognized and characterized. ... The standard therapy is a fructose-free diet. As long ...
• [12] The only effective treatment for HFI is a fructose- and sucrose-free diet ... the consideration of inborn errors of metabolism is crucial, ... (Part I): Focus on curable or potentially curable diseases. Pediatr. Drugs. 2011;13:357–370. doi: 10.2165/11591610-000000000-00000.
• [13] Three inborn errors are known in the pathway of fructose metabolism; (1) essential or benign fructosuria due to fructokinase deficiency; (2) hereditary fructose intolerance; and (3) fructose-1,6-bisphosphatase deficiency. In this review the focus is set on the description of the clinical symptoms and biochemical anomalies in the three inborn ...

Differential Diagnosis of Obsolete Inborn Errors of Fructose Metabolism

Inborn errors of fructose metabolism are rare genetic disorders that affect the body's ability to metabolize fructose, a type of sugar. While there are three known inborn errors of fructose metabolism (fructokinase deficiency, aldolase B deficiency, and fructose-1,6-bisphosphatase deficiency), some sources may refer to obsolete or outdated terms.

Obsolete Terms:

• Hereditary Fructose Intolerance: This term is still used in some medical literature to describe an inborn error of fructose metabolism. However, it is essential to note that this term is not as commonly used as the other two conditions (fructokinase deficiency and fructose-1,6-bisphosphatase deficiency).
• Fructose-1,6-Bisphosphatase Deficiency: This condition is also known as glucose-1,6-bisphosphatase deficiency or phosphofructo-1,6-bisphosphatase deficiency. However, the term "fructose-1,6-bisphosphatase" is more commonly used in medical literature.

Differential Diagnosis:

When considering a differential diagnosis for an inborn error of fructose metabolism, it is crucial to consider the following conditions:

• Fructokinase Deficiency: This condition is characterized by a deficiency of the enzyme fructokinase, which is responsible for converting fructose into fructose-1-phosphate.
• Aldolase B Deficiency: This condition is caused by a deficiency of the enzyme aldolase B, which is involved in the breakdown of fructose-1,6-bisphosphate.
• Fructose-1,6-Bisphosphatase Deficiency: As mentioned earlier, this condition is also known as glucose-1,6-bisphosphatase deficiency or phosphofructo-1,6-bisphosphatase deficiency.

Clinical Presentation:

The clinical presentation of these conditions can vary depending on the specific enzyme deficiency. However, common symptoms include:

• Gastrointestinal Symptoms: Abdominal pain, vomiting, and diarrhea are common in all three conditions.
• Neurological Symptoms: Seizures, developmental delays, and behavioral problems may occur in some cases.
• Metabolic Derangement: Elevated levels of fructose and other sugars may be present in the blood and urine.

Diagnosis:

The diagnosis of these conditions is typically made through a combination of clinical presentation, laboratory tests (such as enzyme assays), and genetic analysis. It is essential to consider these conditions in the differential diagnosis of patients presenting with symptoms suggestive of an inborn error of fructose metabolism.

References:

• [1] Essential Fructosuria: A Rare Non-Disease. (Source: 14)
• [2] Hereditary Fructose Intolerance. (Source: 15)
• [3] Fructose-1,6-Bisphosphatase Deficiency. (Source: 15)

Note: The references provided are based on the context information and may not be up-to-date or accurate in current medical literature.