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Summary
FEEDING: AMINO ACID FORMULA DD
  • 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
symptoms
alopecia
no clinical signs or symptoms
onset, infancy
Organic acids, urine
seborrhoic skin rush
laboratory finding
5-Oxoproline 3.0054.00increasedurine
Octenylsuccinic acid0.000.00 increasedurineno data
3-Hydroxyisovaleric acid0.000.00 increasedurineno data
3-Methylcrotonylglycine0.000.00 increasedurineno data
3-Hydroxyisovaleric acid0.000.00 increasedurineno data
Methylcitric acid0.000.00 increasedurineno data
Literature
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