Sarcosinemia

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Sarcosinemia
File:Sarcosine.svg Chemical structure of sarcosine
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Developmental delay, seizures, hypotonia
Complications	N/A
Onset	Infancy
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks	Family history
Diagnosis	Blood test, urine test
Differential diagnosis	Nonketotic hyperglycinemia, other aminoacidurias
Prevention	N/A
Treatment	Dietary management, symptomatic treatment
Medication	N/A
Prognosis	Variable
Frequency	Rare
Deaths	N/A

File:Autosomal recessive - en.svg

Autosomal recessive inheritance

Sarcosinemia is a rare metabolic disorder characterized by an excess of the amino acid sarcosine in the blood plasma. It is caused by a deficiency of the enzyme sarcosine dehydrogenase, which is responsible for the breakdown of sarcosine in the body. The condition is usually benign and does not cause any symptoms or health problems. However, in some cases, it can lead to neurological problems such as mental retardation and seizures.

Causes

Sarcosinemia is caused by a deficiency of the enzyme sarcosine dehydrogenase, which is responsible for the breakdown of sarcosine in the body. This enzyme deficiency is usually due to a genetic mutation.

Symptoms

Most individuals with sarcosinemia do not exhibit any symptoms. However, in some cases, the condition can lead to neurological problems such as mental retardation and seizures.

Diagnosis

Sarcosinemia is diagnosed through a blood test that measures the level of sarcosine in the blood plasma. A high level of sarcosine is indicative of the condition.

Treatment

There is currently no specific treatment for sarcosinemia. Management of the condition typically involves regular monitoring of sarcosine levels in the blood and management of any neurological symptoms if they occur.

See also

• Amino acid metabolism disorder
• Inborn errors of metabolism

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