Normal plasma pipecolic acid level in pyridoxine dependent epilepsy due to ALDH7A1 mutations

Mercimek-Mahmutoglu, Saadet; Donner, Elizabeth; Siriwardena, Komudi

doi:10.1016/j.ymgme.2013.04.018

Cited by 28 publications

(25 citation statements)

References 5 publications

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“…In addition, yet unknown causes of functional vitamin B-6 deficiency have been reported (25,(46)(47)(48). Patients present with convulsions and, frequently, developmental delay (49).…”

Section: Vitamin B-6 Vitamers In Human Plasma and Csfmentioning

confidence: 99%

Vitamin B-6 vitamers in human plasma and cerebrospinal fluid

Albersen¹,

Bosma²,

Luykx³

et al. 2014

The American Journal of Clinical Nutrition

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“…In addition, yet unknown causes of functional vitamin B-6 deficiency have been reported (25,(46)(47)(48). Patients present with convulsions and, frequently, developmental delay (49).…”

Section: Vitamin B-6 Vitamers In Human Plasma and Csfmentioning

confidence: 99%

Vitamin B-6 vitamers in human plasma and cerebrospinal fluid

Albersen¹,

Bosma²,

Luykx³

et al. 2014

The American Journal of Clinical Nutrition

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“…Additional causes of a functional deficiency of vitamin B6 are hypophosphatasia (alkaline phosphatase (ALPL) deficiency; OMIM #241500) [3,4] and hyperprolinaemia type II (pyrroline-5-carboxylate dehydrogenase deficiency; OMIM #239510) [5]. Diagnosis can be difficult, because biochemical abnormalities are not always present [1,6–8] and the response to treatment can be nondirective [9,10]. …”

Section: Introductionmentioning

confidence: 99%

Vitamin B6 in Plasma and Cerebrospinal Fluid of Children

et al. 2015

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BackgroundOver the past years, the essential role of vitamin B6 in brain development and functioning has been recognized and genetic metabolic disorders resulting in functional vitamin B6 deficiency have been identified. However, data on B6 vitamers in children are scarce.Materials and MethodsB6 vitamer concentrations in simultaneously sampled plasma and cerebrospinal fluid (CSF) of 70 children with intellectual disability were determined by ultra performance liquid chromatography-tandem mass spectrometry. For ethical reasons, CSF samples could not be obtained from healthy children. The influence of sex, age, epilepsy and treatment with anti-epileptic drugs, were investigated.ResultsThe B6 vitamer composition of plasma (pyridoxal phosphate (PLP) > pyridoxic acid > pyridoxal (PL)) differed from that of CSF (PL > PLP > pyridoxic acid > pyridoxamine). Strong correlations were found for B6 vitamers in and between plasma and CSF. Treatment with anti-epileptic drugs resulted in decreased concentrations of PL and PLP in CSF.ConclusionWe provide concentrations of all B6 vitamers in plasma and CSF of children with intellectual disability (±epilepsy), which can be used in the investigation of known and novel disorders associated with vitamin B6 metabolism as well as in monitoring of the biochemical effects of treatment with vitamin B6.

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“…Normalization of CSF-α-AASA and CSF-PA would require stricter lysine restriction, but might increase the risks associated with the diet. Plasma PA can normalize on lysine restriction or pyridoxine monotherapy [13], while in fact, due to the unique availability of multiple CSF samples from this individual in this study, PA remained increased in the CNS compartment. Changes in lysine intake do not influence CSF-PA levels, but have an impact on CSF-α-AASA levels.…”

Section: Discussionmentioning

confidence: 67%

Lysine-restricted diet and mild cerebral serotonin deficiency in a patient with pyridoxine-dependent epilepsy caused by ALDH7A1 genetic defect

Mercimek-Mahmutoglu

Corderio

Nagy

et al. 2014

Molecular Genetics and Metabolism Reports

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Pyridoxine dependent epilepsy (PDE) is caused by mutations in the ALDH7A1 gene (PDE-ALDH7A1) encoding α-aminoadipic-semialdehyde-dehydrogenase enzyme in the lysine catabolic pathway resulting in an accumulation of α-aminoadipic-acid-semialdehyde (α-AASA).We present the one-year treatment outcome of a patient on a lysine-restricted diet. Serial cerebral-spinal-fluid (CSF) α-AASA and CSF pipecolic-acid levels showed decreased levels but did not normalize. He had a normal neurodevelopmental outcome on a lysine-restricted diet. Despite normal CSF and plasma tryptophan levels and normal tryptophan intake, he developed mild CSF serotonin deficiency at one year of therapy.Stricter lysine restriction would be necessary to normalize CSF α-AASA levels, but might increase the risks associated with the diet. Patients are at risk of cerebral serotonin deficiency and should be monitored by CSF neurotransmitter measurements.

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Normal plasma pipecolic acid level in pyridoxine dependent epilepsy due to ALDH7A1 mutations

Cited by 28 publications

References 5 publications

Vitamin B-6 vitamers in human plasma and cerebrospinal fluid

Vitamin B-6 vitamers in human plasma and cerebrospinal fluid

Vitamin B6 in Plasma and Cerebrospinal Fluid of Children

Lysine-restricted diet and mild cerebral serotonin deficiency in a patient with pyridoxine-dependent epilepsy caused by ALDH7A1 genetic defect

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