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Baber's syndrome
Associated persons:
Margaret D. Baber
Description:
A syndrome of cirrhosis of the liver with clinical features similar to those found in the Fanconi syndrome. Characterized by failure to thrive, with lethargy, irritability, drowsiness; anorexia, vomiting, and diarrhea; and abdominal distention, foul-smelling stool, rickets, and aminociduria with high excretion of tyrosine, serine, threonine, tryptophan, histidine, and lysine, but without increase in cystine excretion. Both sexes. Affected child is normal at birth, with onset at two to eight weeks of age. Prevalence in French Canadian population of Québeck.
Bibliography:
- G. Medes:
A new error of tyrosine metabolism: Tyrosinosis.
Biochemical Journal, London, 1932, 26: 917-940.
- M. D. Baber:
A case of congenital cirrhosis of the liver with renal tubular defects akin to those in the Fanconi syndrome.
Archives of Disease in Childhood, London, 1956, 31: 335-339.
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