OMIM = Online Medalian Inheritance of Men

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • biotin
artefact that may arise from infant formula preparation - Biotin deficiency in an infant fed with amino acid formula - Increased plasma and urine levels of pyroglutamic acid were found in 4 patients being fed the low-lactose food Nutramigen
no consistent clinical signs or symptoms
onset, infancy
Organic acids, urine
skin rash, eczematous or seborrhoic
laboratory finding
L-Pyroglutamic acid (5-Oxoproline)50.00500.003.0054.00mmol/mol creatinineurine
Octenylsuccinic acid0.000.00 increasedurineno data
3-Hydroxyisovaleric acid50.00100.00 mmol/mol creatinineurine
3-Methylcrotonylglycine11.00120.00 mmol/mol creatinineurine
Methylcitric acid5.0050.00 mmol/mol creatinineurine
Schwarz Met al.Deficiency of GDP-Man:GlcNAc2-PP-Dolichol Mannosyltransferase Causes Congenital Disorder of Glycosylation Type IkAm J Hum Genet743472-4812004
Verhoeven NMet al.Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathwayAm J Hum Genet6851086-10922001
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Huck JHet al.Ribose-5-Phosphate Isomerase Deficiency: New Inborn Error in the Pentose Phosphate Pathway Associated with a Slowly Progressive LeukoencephalopathyAm J Hum Genet744745-7512004
Huck JHet al.Profiling of pentose phosphate pathway intermediates in blood spots by tandem mass spectrometry: application to transaldolase deficiencyClin Chem4981375-13802003
Visentin MSalmona M, Tacconi MTReyes and Reye-like syndromes, drug-related diseases? (causative agents, etiology, pathogenesis, and therapeutic approaches)Drug Metab Rev273519-5391995