PMC7438714_01
(A) The black arrow indicates the proband, and the slash indicates the proband has died. (B) The clinical manifestations of the proband: yellow skin, dark yellow color, abdominal distention, and abdominal wall vein filling. (C) Gene sequencing results: the proband carries the GALT gene c.396C>G (p.His132Gln) and c.974C>T (p.Pro325Leu) complex heterozygous mutation, c.396C>G (p.His132Gln) from the maternal source, and c.974C>T (p.Pro325Leu) from the paternal source.
fped-08-00443-g0001.jpg
PMC7438714_02_fped-08-00443-g0001.jpg
F1
We identified compound heterozygous mutation (c.396C>G; p.His132Gln and c.974C>T; p.Pro325Leu) in family 1 (Figure 1C) and a homozygous missense mutation (c.974C>T; p.Pro325Leu) in family 2 (Figure 2C) respectively.
PMC7438714_02
(A) The black arrow indicates the proband, and the slash indicates the proband has died. (B) The clinical manifestations of the proband: yellow skin, dark yellow color, abdominal distention, and abdominal wall vein filling. (C) Gene sequencing results: the proband carries the GALT gene c.396C>G (p.His132Gln) and c.974C>T (p.Pro325Leu) complex heterozygous mutation, c.396C>G (p.His132Gln) from the maternal source, and c.974C>T (p.Pro325Leu) from the paternal source.
fped-08-00443-g0001.jpg
PMC7438714_02_fped-08-00443-g0001.jpg
F1
We identified compound heterozygous mutation (c.396C>G; p.His132Gln and c.974C>T; p.Pro325Leu) in family 1 (Figure 1C) and a homozygous missense mutation (c.974C>T; p.Pro325Leu) in family 2 (Figure 2C) respectively.
(A) Pedigree chart, black arrow indicates the proband. (B) The proband's condition improves after being fed milk powder without lactose. (C) Gene sequencing results: the proband of pedigree 2 carries the homozygous mutation of GALT gene c.974C>T (p.Pro325Leu) and the parents are all carriers of the mutation.
fped-08-00443-g0002.jpg
PMC7438714_02_fped-08-00443-g0002.jpg
F2
After 3 months of birth, the follow-up showed that there was no vomiting and diarrhea after feeding milk powder without lactose, the mental reaction was good (Figure 2B), the liver function was obviously improved. We identified compound heterozygous mutation (c.396C>G; p.His132Gln and c.974C>T; p.Pro325Leu) in family 1 (Figure 1C) and a homozygous missense mutation (c.974C>T; p.Pro325Leu) in family 2 (Figure 2C) respectively.