Tags

Type your tag names separated by a space and hit enter

Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency.
Arch Dis Child. 1981 Nov; 56(11):885-7.AD

Abstract

A baby presented on day 5 with symptoms of classical galactosaemia which are believed to be owing to a lack of uridine diphosphate-4-epimerase, rather than to the usual galactose-1-phosphate uridyl transferase defect. Apart from galactosaemia the condition was characterised biochemically by a red cell accumulation of galactose-1-phosphate and uridine diphosphate galactose. Galactose restriction modified the acute clinical and biochemical abnormality, but it appears essential to include some galactose in the diet in this condition to allow synthesis of galactosides, including the brain gangliosides.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

7305435

Citation

Holton, J B., et al. "Galactosaemia: a New Severe Variant Due to Uridine Diphosphate Galactose-4-epimerase Deficiency." Archives of Disease in Childhood, vol. 56, no. 11, 1981, pp. 885-7.
Holton JB, Gillett MG, MacFaul R, et al. Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency. Arch Dis Child. 1981;56(11):885-7.
Holton, J. B., Gillett, M. G., MacFaul, R., & Young, R. (1981). Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency. Archives of Disease in Childhood, 56(11), 885-7.
Holton JB, et al. Galactosaemia: a New Severe Variant Due to Uridine Diphosphate Galactose-4-epimerase Deficiency. Arch Dis Child. 1981;56(11):885-7. PubMed PMID: 7305435.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency. AU - Holton,J B, AU - Gillett,M G, AU - MacFaul,R, AU - Young,R, PY - 1981/11/1/pubmed PY - 1981/11/1/medline PY - 1981/11/1/entrez SP - 885 EP - 7 JF - Archives of disease in childhood JO - Arch Dis Child VL - 56 IS - 11 N2 - A baby presented on day 5 with symptoms of classical galactosaemia which are believed to be owing to a lack of uridine diphosphate-4-epimerase, rather than to the usual galactose-1-phosphate uridyl transferase defect. Apart from galactosaemia the condition was characterised biochemically by a red cell accumulation of galactose-1-phosphate and uridine diphosphate galactose. Galactose restriction modified the acute clinical and biochemical abnormality, but it appears essential to include some galactose in the diet in this condition to allow synthesis of galactosides, including the brain gangliosides. SN - 1468-2044 UR - https://www.unboundmedicine.com/medline/citation/7305435/Galactosaemia:_a_new_severe_variant_due_to_uridine_diphosphate_galactose_4_epimerase_deficiency_ L2 - https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/7305435/ DB - PRIME DP - Unbound Medicine ER -