A 14-year-old boy of normal intelligence had characteristics of the Sjögren-Larsson syndrome: congenital ichthyosiform erythroderma, spastic paraparesis, macular degeneration, speech defects, hypertelorism, tooth anomalies, dermatoglyphic anomalies, and autosomal recessive inheritance. Amino acid analysis by column chromatography showed increased glutamine levels in plasma, erythrocytes, spinal fluid, and urine. In the spinal fluid, serine, valine, isoleucine, leucine, lysine, and ethanol amine were increased. Urinary excretion of serine, glycine, lysine, and histidine was increased.
Ionasescu V, Stegink L, Mueller S, Weinstein M. Amino Acid Abnormality in Sjögren-Larsson Syndrome. Arch Neurol. 1973;28(3):197–199. doi:10.1001/archneur.1973.00490210077012
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