STUDY ON AMINO-ACIDURIA
نویسندگان
چکیده
منابع مشابه
The amino-aciduria in galactosaemia.
Excessive quantities of amino-acids have recently been found in the urine of infants with galactosaemia (Holzel, Komrower and Wilson, 1952; Bickel and Hickmans, 1952). At first sight, the occurrence of amino-aciduria in a condition known to be associated with severe liver damage would suggest that the amino-aciduria is of the 'overflow' variety, namely, that it occurs as the result of a rise of...
متن کاملAmino-aciduria and hypermetabolism in progeria.
In 1886 Hutchinson described the first case of alopecia totalis congenita associated with atrophy of the skin, and in 1904 Gilford reported a similar case and described it as premature senility (senilitas praecox) or progeria. From that time to the present about 20 cases have been described in the world literature (Curtin and Kotzen, 1929; Talbot, Butler, Pratt, MacLachlan and Tannheimer, 1945;...
متن کاملIdiopathic hypoproteinaemic oedema and amino-aciduria in an infant.
Hypoproteinaemic oedema may result from a deficiency of protein in the diet or interference with its absorption from impaired synthesis of serum proteins in the liver, or from loss of protein, as in albuminuria. In some cases, termed idiopathic hypoproteinaemia, the cause is obscure. A few examples in children are on record. Schick and Greenbaum (1945) described an I -year-old girl who had had ...
متن کاملArgininosuccinic aciduria, an inborn error of amino acid metabolism.
It is probable that many, if not all, of the inherited ('inborn') metabolic disturbances result from a specific enzyme defect, arising from a single abnormal gene. Examples are now known of a number of such inherited defects, some involving amino acids, which result in a block of a metabolic pathway. For example, the normal pathway for the metabolism of phenylalanine and tyrosine is by a series...
متن کاملAutosomal dominant inheritance and amino aciduria in Blackfan-Diamond anaemia.
Since congenital hypoplastic anaemia was first described by Diamond and Blackfan in 1938, over a hundred cases have been reported in the literature. The syndrome is characterized by a profound persistent anaemia, onset early in infancy, a severe hypoplasia of the erythroid precursors of the bone marrow, and absence of other haematological abnormalities. Until steroids become available for treat...
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ژورنال
عنوان ژورنال: Nihon Naika Gakkai Zasshi
سال: 1955
ISSN: 0021-5384,1883-2083
DOI: 10.2169/naika.44.572