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- Saccharopinuria abstract "Saccharopinuria (an excess of saccharopine in the urine), also called saccharopinemia, saccharopine dehydrogenase deficiency or alpha-aminoadipic semialdehyde synthase deficiency, is a variant form of hyperlysinemia. It is caused by a partial deficiency of the enzyme saccharopine dehydrogenase, which plays a secondary role in the lysine metabolic pathway. Inheritance is thought to be autosomal recessive, but this cannot be established as individuals affected by saccharopinuria typically have only a 40% reduction in functional enzyme.".
- Saccharopinuria icd9 "270.7".
- Saccharopinuria omim "268700".
- Saccharopinuria thumbnail Saccharopine.svg?width=300.
- Saccharopinuria wikiPageID "2556626".
- Saccharopinuria wikiPageRevisionID "434480069".
- Saccharopinuria caption Saccharopine.
- Saccharopinuria hasPhotoCollection Saccharopinuria.
- Saccharopinuria icd "270.7".
- Saccharopinuria name "Saccharopinuria".
- Saccharopinuria omim "268700".
- Saccharopinuria width "125".
- Saccharopinuria wordnet_type synset-disease-noun-1.
- Saccharopinuria subject Category:Amino_acid_metabolism_disorders.
- Saccharopinuria subject Category:Rare_diseases.
- Saccharopinuria type Abstraction100002137.
- Saccharopinuria type AminoAcidMetabolismDisorders.
- Saccharopinuria type Attribute100024264.
- Saccharopinuria type Condition113920835.
- Saccharopinuria type Disease114070360.
- Saccharopinuria type Disorder114052403.
- Saccharopinuria type IllHealth114052046.
- Saccharopinuria type Illness114061805.
- Saccharopinuria type PathologicalState114051917.
- Saccharopinuria type PhysicalCondition114034177.
- Saccharopinuria type State100024720.
- Saccharopinuria type Disease.
- Saccharopinuria type AilmentCondition.
- Saccharopinuria type Situation.
- Saccharopinuria comment "Saccharopinuria (an excess of saccharopine in the urine), also called saccharopinemia, saccharopine dehydrogenase deficiency or alpha-aminoadipic semialdehyde synthase deficiency, is a variant form of hyperlysinemia. It is caused by a partial deficiency of the enzyme saccharopine dehydrogenase, which plays a secondary role in the lysine metabolic pathway.".
- Saccharopinuria label "Saccharopinuria".
- Saccharopinuria sameAs m.07mtwk.
- Saccharopinuria sameAs Q7396610.
- Saccharopinuria sameAs Q7396610.
- Saccharopinuria sameAs Saccharopinuria.
- Saccharopinuria wasDerivedFrom Saccharopinuria?oldid=434480069.
- Saccharopinuria depiction Saccharopine.svg.
- Saccharopinuria isPrimaryTopicOf Saccharopinuria.
- Saccharopinuria name "Saccharopinuria".