PMID- 10330343
OWN - NLM
STAT- MEDLINE
DCOM- 19990624
LR  - 20181113
IS  - 0002-9297 (Print)
IS  - 0002-9297 (Linking)
VI  - 64
IP  - 6
DP  - 1999 Jun
TI  - Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the
      disease sialuria and the allosteric site of the enzyme.
PG  - 1563-9
AB  - Sialuria is a rare inborn error of metabolism characterized by cytoplasmic
      accumulation and increased urinary excretion of free N-acetylneuraminic acid
      (NeuAc, sialic acid). Overproduction of NeuAc is believed to result from loss of 
      feedback inhibition of uridinediphosphate-N-acetylglucosamine 2-epimerase
      (UDP-GlcNAc 2-epimerase) by cytidine monophosphate-N-acetylneuraminic acid
      (CMP-Neu5Ac). We report the cloning and characterization of human UDP-GlcNAc
      2-epimerase cDNA, with mutation analysis of three patients with sialuria. Their
      heterozygote mutations, R266W, R266Q, and R263L, indicate that the allosteric
      site of the epimerase resides in the region of codons 263-266. The heterozygous
      nature of the mutant allele in all three patients reveals a dominant mechanism of
      inheritance for sialuria.
FAU - Seppala, R
AU  - Seppala R
AD  - 1Section on Human Biochemical Genetics, Heritable Disorders Branch, National
      Institute of Child Health and Human Development, National Institutes of Health,
      Bethesda, MD 20892-1830, USA.
FAU - Lehto, V P
AU  - Lehto VP
FAU - Gahl, W A
AU  - Gahl WA
LA  - eng
SI  - GENBANK/AF051852
GR  - DK48796/DK/NIDDK NIH HHS/United States
GR  - M01-00064/PHS HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
RN  - 0 (Carrier Proteins)
RN  - 0 (DNA, Complementary)
RN  - EC 5.1.3.- (Carbohydrate Epimerases)
RN  - EC 5.1.3.8 (N-acyl-D-glucosamine 2-epimerase)
RN  - EC 5.1.3.8 (RENBP protein, human)
RN  - GZP2782OP0 (N-Acetylneuraminic Acid)
SB  - IM
MH  - Allosteric Site
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - Carbohydrate Epimerases/*genetics/metabolism
MH  - *Carrier Proteins
MH  - Child, Preschool
MH  - DNA, Complementary
MH  - Female
MH  - Humans
MH  - Male
MH  - Metabolism, Inborn Errors/enzymology/*genetics/urine
MH  - Molecular Sequence Data
MH  - *Mutation
MH  - N-Acetylneuraminic Acid/*urine
PMC - PMC1377899
EDAT- 1999/05/20 06:00
MHDA- 2000/03/21 09:00
CRDT- 1999/05/20 06:00
PHST- 1999/05/20 06:00 [pubmed]
PHST- 2000/03/21 09:00 [medline]
PHST- 1999/05/20 06:00 [entrez]
AID - S0002-9297(07)63658-1 [pii]
AID - 10.1086/302411 [doi]
PST - ppublish
SO  - Am J Hum Genet. 1999 Jun;64(6):1563-9. doi: 10.1086/302411.