Two adult galactosaemia females with normal ovarian function and identical GALT mutations (Q188R/R333G)

Two adult galactosaemia females with normal ovarian function and identical GALT mutations (Q188R/R333G)

We report two unrelated cases of adult galactosaemia females with normal ovarian function and Q188R/R333G mutations. Clinical history has been followed for 40 years. Biochemical finding in one patient are consistent with the presence of small amounts of galactose‐1‐phosphate uridyltransferase (GALT)...

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Veröffentlicht in:Journal of inherited metabolic disease 2003-07, Vol.26 (1), p.75-79
Hauptverfasser: Ng, W. G., Xu, Y‐K., Wong, L‐J., Kaufman, F. R., Buist, N. R. M., Donnell, G. N.
Format: Artikel
Sprache:eng
Schlagworte:
Adult
Biological and medical sciences
DNA - genetics
Errors of metabolism
Female
Galactosemias - genetics
Humans
Medical sciences
Metabolic diseases
Middle Aged
Miscellaneous hereditary metabolic disorders
Mutation - genetics
Ovary - physiology
Reverse Transcriptase Polymerase Chain Reaction
Uridine Diphosphate Galactose - metabolism
Uridine Diphosphate Glucose - metabolism
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Zusammenfassung:We report two unrelated cases of adult galactosaemia females with normal ovarian function and Q188R/R333G mutations. Clinical history has been followed for 40 years. Biochemical finding in one patient are consistent with the presence of small amounts of galactose‐1‐phosphate uridyltransferase (GALT) activity, which differs from classical galactosaemia.
ISSN:0141-8955
1573-2665
DOI:10.1023/A:1024039916476