hyperlysinemia—type 1

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hyperlysinemia—type 12016-11-26T05:16:19+00:00

hyperlysinemia—type 1 

METABOLISM

Definition Hyperlysinemia type 1 is an autosomal recessive disorder OMIM:238700 with variable clinical features, including non-specific seizures, hypotonia, or mildly delayed psychomotor development. Up to half of probands are asymptomatic; hyperlysinemia is generally regarded as a benign metabolic defect.

Lab Increased serum lysine and pipecolic acid.

Molecular pathology Defects of AASS, which encodes aminoadipate-semialdehyde synthase, a bifunctional enzyme that catalyse lysine degradation, cause hyperlysinemia—type 1.  

Synonyms Alpha-aminoadipic semialdehyde synthase deficiency, l-lysine:NAD-oxido-reductase deficiency, lysine:alpha-ketoglutarate reductase deficiency, lysine intolerance (in part) 

References http://www.uniprot.org/uniprot/Q9UDR5

http://www.omim.org/entry/238700

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