Diagnostic Criteria

No consensus clinical diagnostic criteria for serine deficiency disorders have been published.

Suggestive Findings

A serine deficiency disorder should be suspected in individuals with the following clinical, imaging, and laboratory findings and family history. Clinical and brain MRI findings can vary between phenotypes:

• Prenatal onset (Neu-Laxova syndrome)

Source: GeneReviews — "Serine Deficiency Disorders"

Differential Diagnosis

ASCT1 transporter deficiency, GOT2 deficiency, and other selected disorders with clinical and/or biochemical features that may resemble serine deficiency disorders are summarized in . Note: Given the first step in the synthesis of L-serine is an oxidation-reduction (redox) reaction , all defects that affect the redox reaction (e.g., GOT1 deficiency, mitochondrial complex I deficiency) can potentially affect the synthesis of serine and result in secondary serine deficiency. Table 2. Genetic Disorders in the Differential Diagnosis of Serine Deficiency Disorders

Management Guidelines

No clinical practice guidelines for serine deficiency disorders have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with a serine deficiency disorder, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 3. Serine Deficiency Disorders: Recommended Evaluations Following Initial Diagnosis

Source: GeneReviews — "Serine Deficiency Disorders"

Clinical Guidance

Avoid known triggers of seizure activity (e.g., infection, physical stress, emotional stress).

Source: GeneReviews — "Serine Deficiency Disorders"

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "Serine Deficiency Disorders"

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 5. Recommended Surveillance for Individuals with Serine Deficiency Disorders

Source: GeneReviews — "Serine Deficiency Disorders"