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α-Aminoadipic aciduria, a non-deleterious inborn metabolic defect (1974)

Fischer, Milton H. ; Gerritsen, Theo ; Opitz, John M.

Springer

Human genetics 〈Berlin〉 24 (1974), S. 265-270

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ISSN: 1432-1203

Source: Springer Online Journal Archives 1860-2000

Topics: Biology , Medicine

Notes: Summary A new inborn defect of amino acid metabolism, α-aminoadipic aciduria, which is probably situated in the metabolic breakdown pathway of lysine, is reported in 2 brothers. One of them was of borderline intelligence; the other was apparently normal in all respects. These 2 boys and another brother show a variant familial developmental pattern, which does not seem to be a true multiple congenital anomaly syndrome, while a sister of the mother has tuberous sclerosis. The retardation of the propositus cannot be attributed to α-aminoadipic aciduria or tuberous sclerosis.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF00297590

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