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S.V.

JAMA. 1970;212(3):473.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

When a chronic degenerative disease, which afflicts predominantly the old and the middle-aged, appears in a younger patient, it is generally viewed as an atypical manifestation, a curiosity, an exception which proves the rule. Sometimes, however, this early occurrence leads to the discovery of an etiologically distinct entity within the wider framework of a disease previously considered homogeneous. Such an entity is emphysema with a genetically determined deficiency of the trypsin-inhibiting enzyme, alpha₁-antitrypsin. Another example is phosphoribosyltransferase-deficiency gout, in which the absence of an enzyme catalyzing reconversion of hypoxanthine and guanine to ribonucleotide causes accumulation of uric acid in the blood. Both disorders are genetic diseases with clearly defined enzymatic defects.

Lacking such clear definition is the basic defect underlying one other disorder belonging in this category of splinter subgroups—pernicious anemia associated with acquired hypogammaglobulinemia. This association has been reported often enough over the past decade to exclude the possibility . . . [Full Text PDF of this Article]

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