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Summary
NEWBORNS, PREMATURE INFANTS, TRANSIENT IMMATURITY OF TRANSPORT SYSTEMS OR ENZYMES

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • no specific treatment
  • supportive/symptomatic therapy
symptoms
Amino acids, urine
onset, neonatal
Organic acids, urine
laboratory finding
Glycine 210.00743.00increasedurine
2-Oxoglutaric acid600.001200.00 mmol/mol creatinineurine
L-Pyroglutamic acid50.00500.00 mmol/mol creatinineurine
Methionine normal-increasedplasma
Literature
Heymans HSWanders RJA, Schutgens RBHPeroxisomal disordersJ Inherit Metab Dis00421-4331995
Tetreault M,et al.Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndromeHum Genet1349981-9912015