Vitamin B6-dependent and responsive disorders (Homo sapiens)

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Lysine degradation pathwayFig. 11.2DietHyperprolinaemia type IIpyridoxalPNPOP5C dehydrogenasepyridoxamine-pSaccharopinealpha aminoadipic acidpyridoxamineP5CPyridoxinePipecolic acidpyridoxine-glucosideAntiquitinTNSALPPyridoxal-Pglutamic semialdehydeVitamin B6PLPIPpiperideine-2-carboxylateL-lysineglutamic acid2-keto 6-amino caproic acidL-prolinealpha aminoadipic semialdehydePyridoxal-PPLPpyridoxalpyridoxamine-pPyridoxine-Ppyridoxaminepyridoxamine-pPyridoxinePyridoxine-Ppiperideine-6-carboxylatePyridoxine dependentepilepsy (PDE)Catabolism of L-prolineFig. 11.3PKPKAbsorptionIPPKHepatic metabolismBloodCell membraneLEGEND:Release into circulation (=transport out of liver)Cellular uptake or transport accross blood-brain barrierBlood-brain barrier(Brain) cellPKPKPKPNPO


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  1. Blau, N., Duran, M., Gibson, K.M., Dionisi-Vici, C.; ''Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, Chapter 11''; SBN 978-3-642-40337-8, 2014


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104396view14:18, 23 May 2019Mkutmonadded one Rhea identifier
104023view17:38, 25 April 2019IreneHemelModified description
102316view13:47, 19 December 2018DeSlChanged wrong ID for glutamic semialdehyde
98922view05:18, 16 October 2018EgonwModified description
98254view09:48, 15 August 2018DeSlModified description
98252view09:45, 15 August 2018DeSlChanged disease nodes to labels, changed layout of background colour slighlty.
97294view20:25, 7 May 2018Khanspersconnected interactions
96743view06:05, 2 April 2018EgonwReplaced secondary ChEBI identifiers with primary identifiers.
96735view15:03, 1 April 2018EgonwConverted interactions to regular arrows, which were not mim:conversions.
96671view15:26, 25 March 2018EgonwConverted interactions to regular arrows, which were not mim:conversions.
96570view13:23, 20 March 2018Lisaaheldadded more ID's
96569view13:08, 20 March 2018LisaaheldAdded ID's
96568view12:54, 20 March 2018LisaaheldAdded IDs
96534view21:07, 17 March 2018DeSlConnected all unconnected lines
96513view16:16, 16 March 2018DeSlOntology Term : 'neural cell' added !
96512view16:13, 16 March 2018DeSlOntology Term : 'hyperprolinemia type II disease pathway' added !
96511view16:12, 16 March 2018DeSlOntology Term : 'hypophosphatasia disease pathway' added !
96510view16:12, 16 March 2018DeSlOntology Term : 'infantile hypophosphatasia' added !
96509view16:12, 16 March 2018DeSlOntology Term : 'childhood hypophosphatasia' added !
96508view16:11, 16 March 2018DeSlOntology Term : 'hypophosphatasia' added !
96507view16:11, 16 March 2018DeSlOntology Term : 'lysine degradation pathway' added !
96506view16:10, 16 March 2018DeSlOntology Term : 'vitamin B6 metabolic pathway' added !
96505view16:08, 16 March 2018DeSladded last 2 diseases, changed layout a bit more.
96504view15:38, 16 March 2018DeSlModified description
96503view15:37, 16 March 2018DeSlAdded OMIM IDs for diseases, removed BIND IDs for conversions which were not needed.
96502view15:35, 16 March 2018DeSlModified description
96501view15:25, 16 March 2018DeSlMade various layout changes, added more metabolites+enzymes, changed wrong IDs
96486view16:45, 15 March 2018LisaaheldAddes ASA
96475view16:06, 15 March 2018Lisaaheldmade P5C and P6C red and gave name
96292view15:50, 7 March 2018LisaaheldNew pathway

External references


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NameTypeDatabase referenceComment
2-keto 6-amino caproic acidMetabolite
AntiquitinProteinENSG00000164904 (Ensembl) Aldehyde dehydrogenase 7 family, member A1, also known as ALDH7A1 or antiquitin
Hyperprolinaemia type II239510DISEASE with OMIM ID
IPProteinIntestinal alkaline phosphatases
L-lysineMetaboliteCHEBI:18019 (ChEBI)
L-prolineMetaboliteCHEBI:17203 (ChEBI)
P5CMetabolitedelta1-pyrroline-5-carboxylate (P5C)
P5C dehydrogenaseProtein
PKProteinPhosphate kinase
PLPMetaboliteCHEBI:18405 (ChEBI) Pyridoxal-5-Phosphate (=PLP)
PNPOProteinpyridoxamine 5'-phosphate oxidase
Pipecolic acidMetaboliteCHEBI:6284 (ChEBI)
Pyridoxal-PMetaboliteCHEBI:18405 (ChEBI)
Pyridoxine dependent epilepsy (PDE)266100
  • aka Alpha-amino adipic semialdehyde (AASA) dehydrogenase deficiency
Pyridoxine-PMetaboliteCHEBI:28803 (ChEBI)
PyridoxineMetaboliteCHEBI:8671 (ChEBI)
SaccharopineMetaboliteCHEBI:7406 (ChEBI)
  • hydrolyses
  • tissue non-specific alkaline phosphatase aka TNSALP
Vitamin B6MetaboliteCHEBI:27306 (ChEBI)
alpha aminoadipic acidMetabolite
alpha aminoadipic semialdehydeMetabolite
glutamic acidMetaboliteCHEBI:16015 (ChEBI)
glutamic semialdehydeMetabolite4392 (PubChem-compound) Drawing in Chapter 11 Blau contains an error for this metabolite, one carbon is missing from the structure!
pyridoxalMetaboliteCHEBI:17310 (ChEBI) AKA PL
pyridoxamineMetaboliteCHEBI:57761 (ChEBI)
pyridoxine-glucosideMetaboliteCHEBI:17382 (ChEBI) pyridoxine-5'-beta-D-glucoside aka PNG aka pyridoxine-glucoside

Annotated Interactions

SourceTargetTypeDatabase referenceComment
Pyridoxal-PPLPmim-conversionTNSAP (BIND) TNSAP
PyridoxinePyridoxine-Pmim-modificationPhosphate kinase (BIND) Phosphate kinase
pyridoxalPLPmim-modificationPhosphate kinase (BIND) Rephosphorylation
pyridoxaminepyridoxamine-pmim-modificationPhosphate kinase (BIND) Phosphate kinase
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