inborn disorder of lysine and hydroxylysine metabolism

Findings

No curated finding names inborn disorder of lysine and hydroxylysine metabolism yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• inborn disorder of amino acid and other organic acid metabolism
• inborn disorder of aspartate family metabolism

Narrower terms (5)

• 2-aminoadipic 2-oxoadipic aciduria
• hyperlysinemia
• inborn disorder of lysine, hydroxylysine, and tryptophan metabolism
• saccharopinuria
• seizures-intellectual disability due to hydroxylysinuria syndrome