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Mental retardation associated with an unusual amino acid excretion pattern
Author(s) -
Daniel William L.,
Tosi Terry
Publication year - 1974
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1974.tb00631.x
Subject(s) - arylsulfatase , endocrinology , medicine , excretion , hypotonia , glycine , urinary system , arylsulfatase a , amino acid , chemistry , biology , biochemistry , enzyme
A patient presenting with progressive mental and physical deterioration, convulsions and hypotonia was found to have increased urinary alanine and glycine. Arylsulfatase A activities in brain, liver, and kidney were one‐half to one‐fourth normal. Both acid phosphatase and beta‐glucuronidase activities were increased. Cholesterol sulfate and two unidentified lipids were present in elevated quantities in brain, liver, and kidney. Froth parents and the patient's only sibling were clinically normal and exhibited normal urinary amino acid excretion profiles. Glycine loading was unsuccessful in eliciting abnormal responses in the parents' excretion patterns. Both parents had normal levels of leukocyte beta‐glucuronidase and arylsulfatase A.