has material basis in germline mutation in HLCS holocarboxylase synthetase deficiency https://rarediseases.info.nih.gov/diseases/2721/holocarboxylase-synthetase-deficiency https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html#biotinidase https://www.malacards.org/card/holocarboxylase_synthetase_deficiency MESH:D028922 neonatal multiple carboxylase deficiency DOID:859 holocarboxylase synthase deficiency MEDGEN:120653 NANDO:1200821 Orphanet:79242 ICD9:270.8 holocarboxylase synthetase deficiency GARD:0002721 SCTID:360369003 OMIM:253270 multiple carboxylase deficiency SCTID:15307001 NCIT:C98842 A rare, early-onset and life-threatening, multiple carboxylase deficiency that when left untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma and death. MONDO:0009666 May occur as a secondary consequence of impaired biotinidase activity doi:10.1074/jbc.M806985200 early-onset multiple carboxylase deficiency UMLS:C0268581 multiple carboxylase deficiency inborn disorder of branched-chain amino acid metabolism metabolic epilepsy