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Hypoglycinaemia and psychomotor delay in a child with xeroderma pigmentosum
Author(s) -
Quackenbush E. J.,
Kraemer K. H.,
Gahl W. A.,
Schirch V.,
Whiteman D. A. H.,
Levine K.,
Levy H. L.
Publication year - 1999
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005691424004
Subject(s) - xeroderma pigmentosum , hyperglycinemia , glycine , hypotonia , medicine , genetics , psychomotor retardation , biology , amino acid , gene , pathology , dna repair , alternative medicine
Glycine is a nonessential amino acid that serves as both an inhibitory and an excitatory neurotransmitter. Hyperglycinaemia occurs in nonketotic hyperglycinaemia, a primary defect in the glycine cleavage pathway, and as a secondary feature of several inborn errors of organic acid metabolism. However, specifically low levels of glycine have never been reported. Here we report a child with complementation group C xeroderma pigmentosum (XP) characterized by a splice donor mutation in the XPC gene, multiple skin cancers and specific and persistent hypoglycinaemia. He has cognitive delay, lack of speech, autistic features, hyperactivity and hypotonia, all unexplained by the diagnosis of XP group C, a non‐neurological form of the disease. Treatment with oral glycine has improved his hyperactivity. Specific hypoglycinaemia could indicate a metabolic disorder producing neurological dysfunction. Whether it is related to or coincidental with the XP is unclear.