DSM+II+1968

+DEFINITIONS OF TERMS 17
ing disorders of lipid, carbohydrate and protein metabolism, and deficiencies
of nutrition.
Cerebral lipoidosis, infantile (Tay-Sach's disease). This is caused
by a single recessive autosomal gene and has infantile and juvenile
forms. In the former there is gradual deterioration, blindness after
the pathognomonic "cherry-red spot," with death occurring usually
before age three.
Cerebral lipoidosis, late infantile (Bielschowsky's disease). This
differs from the preceding by presenting retinal optic atrophy instead
of the "cherry-red spot."
Cerebral lipoidosis, juvenile (Spielmeyer-Vogt disease). This usually
appears between the ages of five and ten with involvement of the
motor systems, frequent seizures, and pigmentary degeneration of
the retina. Death follows in five to ten years.
Cerebral lipoidosis, late juvenile (Kufs disease). This is categorized
under mental retardation only when it occurs at an early age.
Lipid histiocytosis of kerasin type (Gaucher's disease). As a rule this
condition causes retardation only when it affects infants. It is characterized
by Gaucher's cells in lymph nodes, spleen or marrow.
Lipid histiocystosis of phosphatide type (Niemann-Pick's disease).
Distinguished from Tay-Sach's disease by enlargement of liver and
spleen. Biopsy of spleen, lymph or marrow show characteristic "foam
cells."
Phenylketonuria. A metabolic disorder, genetically transmitted as a
simple autosomal recessive gene, preventing the conversion of phenylalanine
into tyrosine with an accumulation of phenylalanine, which
in turn is converted to phenylpyruvic acid detectable in the urine.
Hepatolenticular degeneration (Wilson's disease). Genetically transmitted
as a simple autosomal recessive. It is due to inability of
ceruloplasmin to bind copper, which in turn damages the brain. Rare
in children.
Porphyria. Genetically transmitted as a dominant and characterized
by excretion of porphyrins in the urine. It is rare in children, in whom
it may cause irreversible deterioration.
Galactosemia. A condition in which galactose is not metabolized,
causing its accumulation in the blood. If milk is not removed from
the diet, generalized organ deficiencies, mental deterioration and
death may result.