.

e:

:
. -

-1- -

GALT
UDP--4-
UDP-
UDP- -1-

, GALT -
1 35.000 .
, GALT - 1
8.000 .
GALK - 1 100.000.
, : 1 1.600; :
5%;
GALE: 1 23.000

: -1-
-1-

UDP- ->
,






E. coli?

) :
-
.

) : .
-
,

.
- .

1-GALT (-1 )

9p13

,
-

2- GALK ()

17q24

3-GALE (UDP-
4-)

1p36


2-3
-
, ,
.

-1-

(
),

.

2




,

-
.

.

 ,

GALK

,
,

.


GALT


.




(56%),

(46%),
(10%),

( 85%
),

(18%),

(
).

LOGO




,
GALT.
3 :
Beutler
Hill
Florida


(
)

(
E. Colli D73)

(GAL)
(>0,8 /)

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GALT

GALT

,
13C- 13CO2
.


Gal >0,8/



,


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2. ;
3. ;
4. ;
5. ,
, ,

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-
-
-
-
- , ,
-

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.
-1-
3,5 mg/dL (140 mmol/L).
(odds
ratio)
.

7

,

.

.

,
,
,
(
)
.

1.
Murphy M, McHugh B, Tighe O, et al. Genetic basis of transferase-deficient galactosaemia in Ireland and
the population history of the Irish Travellers. Eur J Hum Genet 1999; 7:549.
2.
Hirokawa H, Okano Y, Asada M, et al. Molecular basis for phenotypic heterogeneity in galactosaemia:
prediction of clinical phenotype from genotype in Japanese patients. Eur J Hum Genet 1999; 7:757.
3.
National Newborn Screening and Genetics Resource Center; 2002 Newborn Screening and Genetic Testing
Symposium.
4.
Coman DJ, Murray DW, Byrne JC, et al. Galactosemia, a single gene disorder with epigenetic
consequences. Pediatr Res 2010; 67:286.
5.
BEUTLER E, BALUDA MC, STURGEON P, DAY R. A NEW GENETIC ABNORMALITY RESULTING
IN GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY. Lancet 1965; 1:353.
6.
Kelley RI, Segal S. Evaluation of reduced activity galactose-1-phosphate uridyl transferase by combined
radioisotopic assay and high-resolution isoelectric focusing. J Lab Clin Med 1989; 114:152.
7.
Holton JB, Walter JH, Tyfield LA. Galactosemia. In: Metabolic and molecular bases of inherited disease,
8th ed, Scriver CR, Beaudet AL, Sly WS, Valle D (Eds), McGraw-Hill, New York 2001. p.1553.
8.
Ficicioglu C, Thomas N, Yager C, et al. Duarte (DG) galactosemia: a pilot study of biochemical and
neurodevelopmental assessment in children detected by newborn screening. Mol Genet Metab 2008; 95:206.
9.
Leslie ND, Immerman EB, Flach JE, et al. The human galactose-1-phosphate uridyltransferase gene.
Genomics 1992; 14:474.
10.
Shield JP, Wadsworth EJ, MacDonald A, et al. The relationship of genotype to cognitive outcome in
galactosaemia. Arch Dis Child 2000; 83:248.
11.
Cleary MA, Heptinstall LE, Wraith JE, Walter JH. Galactosaemia: relationship of IQ to biochemical control
and genotype. J Inherit Metab Dis 1995; 18:151.
12.
Kaufman FR, Reichardt JK, Ng WG, et al. Correlation of cognitive, neurologic, and ovarian outcome with
the Q188R mutation of the galactose-1-phosphate uridyltransferase gene. J Pediatr 1994; 125:225.