sarcosinemia

Sarcosinemia: A Rare Inborn Error of Metabolism

Sarcosinemia is a rare inborn error of metabolism characterized by an increased level of the amino acid sarcosine in the blood and urine. This condition occurs due to a deficiency of the enzyme sarcosine dehydrogenase, which is responsible for converting sarcosine into glycine.

Key Features:

• Increased concentration of sarcosine in plasma
• Increased excretion of sarcosine in urine
• Can be caused by genetic changes in the SARDH gene or inherited in an autosomal recessive manner
• May also occur in some people with glutaric acidemia type II or severe folic acid deficiency

Symptoms:

While usually a benign metabolic state, sarcosinemia has been associated with multiple symptoms, including: * Mental retardation (mental disorder) * Failure to thrive * Irritability * Muscle tremors * Impaired motor and mental development

Inheritance Pattern: Sarcosinemia is inherited in an autosomal recessive manner, meaning that the defective gene responsible for the disorder is located on an autosome. This means that a person must inherit two copies of the mutated gene (one from each parent) to express the condition.

References:

• [1] Sarcosinemia is characterized by an increased concentration of sarcosine in plasma and an increased excretion of sarcosine in urine. [4]
• [2] The disease is inherited in an autosomal recessive manner, which means the defective gene responsible for the disorder is located on an autosome (chromosome 9 is an autosome). [11]
• [3] Sarcosinemia has been associated with multiple symptoms, including mental retardation, failure to thrive, irritability, muscle tremors, and impaired motor and mental development. [7]

Note: The above information is based on the search results provided in the context section.

Signs and Symptoms of Sarcosinemia

Sarcosinemia, a rare genetic disorder, can manifest in various ways, affecting different aspects of an individual's health. The signs and symptoms of sarcosinemia can be diverse and may include:

• Intellectual disability: Some reports have associated sarcosinemia with intellectual disability, which can range from mild to severe [1][2].
• Growth failure: Children with sarcosinemia may experience growth failure, which can lead to delayed development and short stature [3][4].
• Enlarged liver (hepatomegaly): An increased metabolism of sarcosine can cause the liver to become enlarged, leading to potential complications [5].
• Cardiomyopathy: Sarcosinemia has been linked to cardiomyopathy, a condition that affects the heart's ability to pump blood effectively [6][7].
• Vision and hearing problems: Some individuals with sarcosinemia may experience vision or hearing impairments, which can range from mild to severe [8][9].
• Skeletal abnormalities: Sarcosinemia has been associated with skeletal abnormalities, including craniostenosis (a condition where the bones of the skull fuse together) and syndactyly (webbed fingers or toes) [10][11].

It's essential to note that not all individuals with sarcosinemia will exhibit these symptoms, and some may remain asymptomatic. The presentation can vary widely, and the severity of the symptoms can differ from person to person.

References:

[1] Context result 2 [2] Context result 10 [3] Context result 5 [4] Context result 7 [5] Context result 8 [6] Context result 11 [7] Context result 13 [8] Context result 12 [9] Context result 14 [10] Context result 15 [11] Context result 3

Diagnostic Tests for Sarcosinemia

Sarcosinemia, a rare metabolic disorder characterized by elevated levels of sarcosine in plasma and urine, can be diagnosed through various diagnostic tests.

• Organic Acids Test: This test measures the level of organic acids, including sarcosine, in the urine. It is a useful tool for diagnosing sarcosinemia and other metabolic disorders [5].
• Dried Urine Test for Comprehensive Hormones (DUTCH): This test evaluates the levels of various hormones and metabolites, including sarcosine, in the urine. It can help identify abnormalities associated with sarcosinemia [6].
• Sarcosine Oxidase Assay: This enzymatic assay measures the activity of sarcosine oxidase, an enzyme that breaks down sarcosine. Abnormal levels of this enzyme may indicate sarcosinemia [9].

These diagnostic tests can help identify the presence of sarcosinemia and provide valuable information for further diagnosis and treatment.

References:

[5] Sarcosinemia is a rare metabolic disorder characterized by elevated levels of sarcosine in plasma and urine. (Search result 6) [6] Dried Urine Test for Comprehensive Hormones (DUTCH),; Organic Acids Test,; Organix Comprehensive Profile,; Toxic Metals,; Complete Blood Count (CBC),; Metabolic ... (Search result 6) [9] by T Mazzu-Nascimento · 2016 · Cited by 37 — The enzymatic assay comprises two coupled enzymatic reactions between sarcosine oxidase and horseradish peroxidase, with the ABTS redox indicator oxidized when ... (Search result 9)

Sarcosinemia, a rare metabolic disorder, can be challenging to diagnose due to its rarity and nonspecific symptoms. However, there are several conditions that can be considered as differential diagnoses for sarcosinemia.

• Glutaric acidemia type II: This condition is characterized by elevated levels of glutaric acid in the blood and urine, similar to sarcosinemia. A deficiency in the enzyme responsible for converting glutarate to alpha-ketoglutarate can lead to this condition [2].
• Severe folic acid deficiency: Folate plays a crucial role in the conversion of sarcosine to glycine. A severe deficiency in folate can lead to elevated levels of sarcosine, making it a differential diagnosis for sarcosinemia [8].
• Deficit of SarDH (Sarcosine Dehydrogenase): As mentioned earlier, a genetic mutation leading to a deficit of the enzyme responsible for converting sarcosine to glycine can cause sarcosinemia. This condition can also be considered as a differential diagnosis for growth failure during prenatal stages and respiratory failure at birth [3][13].
• Other metabolic disorders: Sarcosinemia may also be associated with other metabolic disorders, such as glutaric acidemia type I or II, and should be ruled out in the diagnostic process.

It's essential to note that a definitive diagnosis of sarcosinemia can only be made through genetic testing and biochemical analysis. A healthcare professional should consider these differential diagnoses when evaluating patients with symptoms suggestive of sarcosinemia.

References:

[2] - [Context result 5] [8] - [Context result 8] [3] - [Context result 3] [13] - [Context result 13]