obsolete inborn errors pyruvate metabolism

Obsolete Inborn Errors of Pyruvate Metabolism

Inborn errors of pyruvate metabolism refer to a group of rare genetic disorders that affect the body's ability to metabolize pyruvate, a key intermediate in cellular energy production. These disorders are characterized by impaired function of enzymes involved in pyruvate metabolism, leading to accumulation of toxic substances and disruption of normal metabolic processes.

Types of Obsolete Inborn Errors

The obsolete inborn errors of pyruvate metabolism include:

• Pyruvate dehydrogenase complex deficiency (PDCD): a rare neurodegenerative disorder associated with abnormal mitochondrial metabolism [3].
• Defects in purine and pyrimidine metabolism: rare disorders that affect the body's ability to metabolize these essential molecules, leading to accumulation of toxic substances [10].

Symptoms

The symptoms of obsolete inborn errors of pyruvate metabolism can vary depending on the specific disorder. However, common symptoms include:

• Lethargy
• Poor feeding
• Apnea or tachypnea
• Recurrent vomiting
• Metabolic acidosis and/or hyperammonemia [4].
• Variable lactic acidosis, impaired psychomotor development, and other neurological symptoms [8].

Incidence

The incidence of obsolete inborn errors of pyruvate metabolism is rare. These disorders are often inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition [5].

References

• Gupta N. Pyruvate dehydrogenase complex deficiency: A review of the literature. [3]
• Burton BK. Inborn errors of metabolism in infancy: A guide to diagnosis. Pediatrics 102:E69, 1998. [13]
• van de Burgt N. Inborn errors of metabolism (IEMs): A review of the current understanding. [9]

Note: The information provided is based on the search results and may not be comprehensive or up-to-date.

Based on the provided context, here are some signs and symptoms associated with obsolete inborn errors of pyruvate metabolism:

• Lactic acidosis: This is a common feature in several IEMs (inborn errors of metabolism), including pyruvate carboxylase deficiency [11]. Lactic acidosis can cause vomiting, abdominal pain, muscle weakness, and fatigue.
• Neurological issues: In some cases, neurological signs such as seizures, obtundation, developmental delay, ataxia, hypotonia, and abnormal eye movements may be the predominant feature in IEMs [9].
• Metabolic dysfunction: Symptoms like lethargy and tachypnea are often seen in infants with IEMs, including those related to pyruvate metabolism [5, 9].
• Abnormal odors of urine: In some cases, an abnormal odor of urine may be a characteristic feature of certain IEMs, such as those involving pyruvate metabolism [15].

It's essential to note that these symptoms can also be associated with other conditions and are not exclusive to inborn errors of pyruvate metabolism. A comprehensive diagnosis by a medical professional is necessary for accurate identification.

References: [5] - Context result 4 [9] - Context result 9 [11] - Context result 11 [15] - Context result 15

Based on the provided context, it appears that there are several diagnostic tests associated with inborn errors of metabolism related to pyruvate metabolism.

• Visual inspection of urine: At one time, the diagnosis of certain disorders was achieved using state-of-the-art technology: visual inspection of recently voided urine [6].
• Measurement of serum carnitine and plasma acylcarnitine profile: These tests can be helpful in diagnosing pyruvate metabolism defects [3].
• Urine organic acid analysis: This test can also be used to diagnose pyruvate metabolism defects, as well as other inborn errors of metabolism [3].
• Pyruvate and Ketone bodies tests (P): These tests are specifically designed for diagnosing pyruvate metabolism defects [15].

It's worth noting that while these diagnostic tests were once used to diagnose certain disorders related to pyruvate metabolism, they may not be as commonly used today due to advances in technology and the development of more modern diagnostic tools.

References:

• [3] Urine organic acid analysis, measurement of serum carnitine, and analysis of the plasma acylcarnitine profile are the most helpful laboratory tests for diagnosing pyruvate metabolism defects.
• [6] At one time, the diagnosis of certain disorders was achieved using state-of-the-art technology: visual inspection of recently voided urine.
• [15] Pyruvate, and Ketone bodies tests (P) 2,3: Pyruvate metabolism defects: ... Diagnostic test for mucopolysaccharidosis. II. Rapid quantification of glycosaminoglycan in urine samples collected on a paper matrix. Clin Chem. 1989;35(10):2074–2081

Based on the provided context, it appears that there are some outdated treatments for inborn errors related to pyruvate metabolism.

• Phenylbutyrate: According to search result [7], phenylbutyrate has been repurposed as a treatment for lactic acidosis associated with certain inborn errors of metabolism. However, it's essential to note that this information might be outdated.
• Acetazolamide: Search result [8] mentions that daily oral doses of acetazolamide reduced the frequency of attacks and reversed the abnormal response to glucose loading in a specific condition related to pyruvate metabolism. Again, please keep in mind that this treatment might not be relevant or effective for modern cases.
• Carnitine supplements: Search result [9] suggests that high-dose carnitine supplements can be administered during episodes of certain metabolic disorders. However, the relevance and efficacy of this treatment for pyruvate metabolism-related conditions are unclear.

It's crucial to consult up-to-date medical resources or a healthcare professional for accurate information on treating inborn errors related to pyruvate metabolism. The provided context suggests that these treatments might be obsolete or not directly applicable to modern cases.

References: * [7] by R Ferriero · 2013 · Cited by 70 * [8] by OB Evans · 1978 · Cited by 21 * [9] Jan 1, 2016

Differential Diagnosis of Inherited Metabolic Disorders Affecting Pyruvate Metabolism

Inborn errors of metabolism associated with pyruvate metabolism can present with a range of clinical symptoms, including lactic acidosis, hypoglycemia, and developmental delay. The differential diagnosis for these disorders includes:

• Pyruvate Dehydrogenase Complex (PDHC) Deficiency: This is the most common inborn error of pyruvate metabolism, caused by a lack of one of the enzymes involved in the PDHC complex [3]. Symptoms include lactic acidosis, hypoglycemia, and developmental delay.
• Pyruvate Carboxylase Deficiency: This disorder affects the conversion of pyruvate to oxaloacetate and can present with lactic acidosis, hypoglycemia, and seizures [6].
• Multiple Carboxylase Deficiency (MCD): This is a rare disorder that affects the activity of multiple carboxylases, including pyruvate carboxylase. Symptoms include lactic acidosis, hypoglycemia, and developmental delay [6].

Key Features to Consider in Differential Diagnosis

When considering the differential diagnosis for inherited metabolic disorders affecting pyruvate metabolism, it is essential to consider the following key features:

• Lactic Acidosis: This is a common feature of many inborn errors of pyruvate metabolism.
• Hypoglycemia: Many of these disorders can present with hypoglycemia due to impaired gluconeogenesis.
• Developmental Delay: Developmental delay or intellectual disability is a common feature of many inherited metabolic disorders affecting pyruvate metabolism.

References

[3] by J Hidalgo · 2021 · Cited by 9 — The most common differential diagnosis of PCD is pyruvate dehydrogenase complex (PDHC) deficiency, which is caused by the lack of one of the enzymes involved in the PDHC complex.

[6] by A Marwaha · 2021 · Cited by 14 — The differential diagnosis of CA-VA deficiency includes transient hyperammonemia of the newborn, pyruvate carboxylase deficiency, multiple carboxylase deficiency (MCD), and other disorders affecting pyruvate metabolism.

[7] by ID Wexler · 1998 · Cited by 39 — Children with inborn errors of PC metabolism have lactic acidosis, hypoglycemia, and mental retardation. The variable severity of the clinical presentation is due to the specific enzyme deficiency involved.