Clinical Guidance

Since the number of individuals with PLPBP deficiency is small, it is difficult to establish true genotype-phenotype correlations. Nonetheless, the following observations about vitamin B6 responsiveness may be helpful in guiding clinical management. , who used an adapted clinical severity score to classify phenotypes and variants in 23 individuals with PLPBP deficiency, suggested that severe phenotypes and/or early mortality are usually associated with:

Diagnostic Criteria

No consensus clinical diagnostic criteria for PLPBP deficiency have been published.

Suggestive Findings

PLPBP deficiency should be suspected in individuals with the following clinical findings, imaging findings, clinical response to a standardized vitamin B6 trial, and family history.

Clinical Findings

Classic PLPBP deficiency (defined as neonatal onset, i.e., within the first 28 days after birth)

Source:

Management Guidelines

No clinical practice guidelines for PLPBP deficiency have been published.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with PLPBP deficiency, the following evaluations summarized in this section (if not performed as part of the evaluation that led to the diagnosis) are recommended:

Surveillance Guidelines

To monitor existing manifestations, the individual's response to pharmacologic treatment and supportive care, and the emergence of new manifestations, see . Table 5. Recommended Surveillance for Individuals with PLPBP Deficiency