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Two familial cases of high blood galactose of unknown aetiology.
J Inherit Metab Dis. 2006 Dec; 29(6):762.JI

Abstract

We report two male siblings presenting as newborns with increased blood galactose, urinary excretion of galactitol, and normal galactose 1-phosphate on a breast milk diet. A lactose-free diet led to normalization of all metabolites, while reintroduction of galactose in the diet resulted in an accumulation of metabolites. Potential causes of galactosaemia include: (1) activities of three enzymes of galactose metabolism: galactokinase (GALK), galactose-1-phosphate uridyltransferase (GALT), and uridine diphosphate galactose 4'-epimerase (GALE), (2) portosystemic shunting, (3) Fanconi-Bickel syndrome, (4) tyrosinaemia. Each was excluded with appropriate tests. These two familial cases may represent a novel autosomal or X-linked recessive disorder of galactose metabolism, possibly due to a novel defect in the transport of galactose across the plasma membrane.

Authors+Show Affiliations

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

16988899

Citation

Brunetti-Pierri, Nicola, et al. "Two Familial Cases of High Blood Galactose of Unknown Aetiology." Journal of Inherited Metabolic Disease, vol. 29, no. 6, 2006, p. 762.
Brunetti-Pierri N, Opekun AR, Craigen WJ. Two familial cases of high blood galactose of unknown aetiology. J Inherit Metab Dis. 2006;29(6):762.
Brunetti-Pierri, N., Opekun, A. R., & Craigen, W. J. (2006). Two familial cases of high blood galactose of unknown aetiology. Journal of Inherited Metabolic Disease, 29(6), 762.
Brunetti-Pierri N, Opekun AR, Craigen WJ. Two Familial Cases of High Blood Galactose of Unknown Aetiology. J Inherit Metab Dis. 2006;29(6):762. PubMed PMID: 16988899.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Two familial cases of high blood galactose of unknown aetiology. AU - Brunetti-Pierri,Nicola, AU - Opekun,Antone R, AU - Craigen,William J, Y1 - 2006/09/21/ PY - 2006/05/24/received PY - 2006/08/21/accepted PY - 2006/07/12/revised PY - 2006/9/22/pubmed PY - 2007/1/9/medline PY - 2006/9/22/entrez SP - 762 EP - 762 JF - Journal of inherited metabolic disease JO - J Inherit Metab Dis VL - 29 IS - 6 N2 - We report two male siblings presenting as newborns with increased blood galactose, urinary excretion of galactitol, and normal galactose 1-phosphate on a breast milk diet. A lactose-free diet led to normalization of all metabolites, while reintroduction of galactose in the diet resulted in an accumulation of metabolites. Potential causes of galactosaemia include: (1) activities of three enzymes of galactose metabolism: galactokinase (GALK), galactose-1-phosphate uridyltransferase (GALT), and uridine diphosphate galactose 4'-epimerase (GALE), (2) portosystemic shunting, (3) Fanconi-Bickel syndrome, (4) tyrosinaemia. Each was excluded with appropriate tests. These two familial cases may represent a novel autosomal or X-linked recessive disorder of galactose metabolism, possibly due to a novel defect in the transport of galactose across the plasma membrane. SN - 1573-2665 UR - https://www.unboundmedicine.com/medline/citation/16988899/Two_familial_cases_of_high_blood_galactose_of_unknown_aetiology_ L2 - https://doi.org/10.1007/s10545-006-0405-x DB - PRIME DP - Unbound Medicine ER -