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Diseases
INTERMEDIARY METABOLISM: NUTRIENTS
1 Disorders of amino acid metabolism
1.7 Disorders of ornithine, proline and hydroxyproline metabolism
Ornithine aminotransferase deficiency
De Barsy syndrome
ALDH18A1-related disease
Pyrroline-5-carboxylate reductase 1 deficiency
Pyrroline-5-carboxylate reductase 2 deficiency
Hyperprolinemia
Proline dehydrogenase deficiency
Pyrroline-5-carboxylate dehydrogenase deficiency
Hydroxyprolinemia
Primary hyperoxaluria type 3
Genes
Gene products
Pathways
Multimers
More information
About Online IMD
OnlineIMD
Home
Diseases
INTERMEDIARY METABOLISM: NUTRIENTS
1 Disorders of amino acid metabolism
1.7 Disorders of ornithine, proline and hydroxyproline metabolism
Ornithine aminotransferase deficiency
De Barsy syndrome
ALDH18A1-related disease
Pyrroline-5-carboxylate reductase 1 deficiency
Pyrroline-5-carboxylate reductase 2 deficiency
Hyperprolinemia
Proline dehydrogenase deficiency
Pyrroline-5-carboxylate dehydrogenase deficiency
Hydroxyprolinemia
Primary hyperoxaluria type 3
Genes
Gene products
Pathways
Multimers
More information
About Online IMD
Primary hyperoxaluria type 3
Synonym(s)
4-Hydroxy-2-oxoglutarate aldolase 1 deficiency
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
HOGA1
/ hydroxyglutarate dehydrogenase 1
10q24.2
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Hydroxyglutarate dehydrogenase
Pathway
Ornithine, proline and hydroxyproline metabolism
Disease group(s)
1.7 Disorders of ornithine, proline and hydroxyproline metabolism