Table 2.

Summary of Nonspecific Biochemical Findings Reported in PLPBP Deficiency

Metabolic Feature 1Incidence 2
Blood/Plasma
Acidosis11/26
High lactate16/28
Anemia at birth3/12
High glycine10/22
High alanine4/22
High threonine1/22
High PLP (on vitamin B6 treatment)4/7
High PL (on vitamin B6 treatment)4/7
CSF
High lactate2/6
High glycine7/11
High alanine2/11
High threonine2/11
High tryptophan1/11
High tyrosine1/11
Low homovanillic acid2/10
High 3-O-methyldopa3/9
High L-dopa1/9
High 5-hydroxytryptophan2/9
Low PLP2/3
Low PL1/1
Urine
High vanillactic acid5/20
High vanilpyruvic acid1/20
High N-acetylvanilalanine1/20
High lactic acid2/20

Based on the review in Heath et al [2020]

CSF = cerebrospinal fluid

1.

Unless otherwise noted, these results are from samples obtained before initiation of vitamin B6 therapy.

2.

Refers to number of individuals with specific finding / total number of individuals in whom the analyte was measured

From: PLPBP Deficiency

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