has material basis in germline mutation in CTH inborn disorder of amino acid metabolism cystathioninuria https://www.malacards.org/card/cystathioninuria cystathionase deficiency cystathioninuria Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases. gamma-cystathionase deficiency DOID:0090142 cystathioninuria (disease) icd11.foundation:1415819835 GARD:0002428 SCTID:13003007 MEDGEN:66353 UMLS:C0220993 OMIM:219500 cystathioninuria (disease) NCIT:C129070 HP:0003153 MONDO:0009058 Orphanet:212 inborn disorder of methionine cycle and sulfur amino acid metabolism