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1. 水溶性ビタミンの概要overview of water soluble vitamins [show details]
…PLP-dependent enzymes such as homocystinuria, cystathioninuria, and xanthurenic aciduria mimic vitamin B6 deficiency. An inborn error of pyridoxine metabolism is responsible for pyridoxine-dependent epilepsy …
2. 先天性代謝異常：代謝性救急疾患inborn errors of metabolism metabolic emergencies [show details]
… Seizures may be the only manifestation of pyridoxine-dependent seizures that are due to alpha-aminoadipic semialdehyde (alpha-AASA) dehydrogenase deficiency .… Pyridoxine (100 mg intravenously) or pyridoxal phosphate (the active form of pyridoxine [vitamin B6],…
3. 高身長や異常に急激な成長がみられる小児the child with tall stature and or abnormally rapid growth [show details]
… It can be central (known as gonadotropin-dependent precocious puberty [GDPP]) or peripheral (known as gonadotropin-independent… Classic homocystinuria is an inherited inborn error of methionine metabolism… A subset of patients respond to treatment with pyridoxine (vitamin B6); a methionine-restricted diet also may be helpful .…
4. ホモシステインの概要overview of homocysteine [show details]
…having homocystinuria but not in other clinical settings. We measure homocysteine levels in patients with suspected homocystinuria and in first-degree relatives of patients with homocystinuria.… cysteine is catalyzed by cystathionine-beta-synthase, a process that requires pyridoxal phosphate (vitamin B6) as a cofactor. Remethylation of homocysteine produces methionine. This reaction is catalyzed either …
5. 小児に急性発症する精神病の救急外来での評価emergency department evaluation of acute onset psychosis in children [show details]
…reported as a prominent presenting feature in patients with homocysteine remethylation defects, homocystinuria, adrenoleukodystrophy, some lysosomal disorders, cerebrotendinous xanthomatosis, and alpha or…

English Journal

The chaperone role of the pyridoxal 5'-phosphate and its implications for rare diseases involving B6-dependent enzymes.

Cellini B, Montioli R, Oppici E, Astegno A, Voltattorni CB.
Clinical biochemistry. 2014 Feb;47(3)158-65.
The biologically active form of the B6 vitamers is pyridoxal 5'-phosphate (PLP), which plays a coenzymatic role in several distinct enzymatic activities ranging from the synthesis, interconversion and degradation of amino acids to the replenishment of one-carbon units, synthesis and degradation of b
PMID 24355692

[Disruption of amino acid metabolism in astrocyte and neurological disorders--possible implication of abnormal glia-neuron network in homocystineuria].

, E E, Y Y, Y Y, .
Brain and nerve = Shinkei kenkyu no shinpo. 2007 Jul;59(7)731-7.
CBS is a vitamin B6-dependent transsulfuration enzyme needed to synthesize cysteine from methionine, catalyzing the condensation of serine with homocysteine to form cystathionine. A deficiency of CBS causes homocystinuria (MIM 236200), one of the most prevalent inborn errors, characterized by mental
PMID 17663144

[Vitamin B6 dependency syndrome].

Tanase S, Morino Y.
Nihon rinsho. Japanese journal of clinical medicine. 1992 Jul;50(7)1581-6.
Many enzymes that require pyridoxal 5'-phosphate (PLP), a coenzyme from a vitamin B6, are involved in amino acid metabolism. B6 dependency syndromes are defined as a group of metabolic disorders which are prevented or alleviated by non-physiologically large doses of vitamin B6, and, hence, they are
PMID 1404887