G

M 2

gangliosidosis,

type I (Tay-Sachs

disease; see text)

Gyi

2

~

anc*

desialo-

GM

2

'g angliosides

Other desialo hexosyl

ceramides accumulate; other

compunds occasionally.

Metachromatic

leukodystrophy (MLD;

sulfatide lipidoses; at

least three types; see text)

3-sulfate-galacto-

sylcerebroside

Cerebrosides other than

sulfatides are decreased;

ceramide dihexoside sulfate

accumulates.

Krabbe’s disease

(globoid cell

leukodystrophy; galactosyl

ceramide lipidosis)

Galactocerebroside

Salfatides are also greatly

decreased, probably as a

secondary feature.

*The circled numbers refer to reactions in Figure 19-8. The abbreviations are the same as in that figure.

Hexosaminidase A ((D)

Sulfatidases (©);

arylsulfatases)

Activator protein sap-B

Galactocerebroside-

/3-galactosidase ((D)

Red spot in retina; mental

retardation; severe

psychomotor retardation;

seizures; blindness; startle

response to sound; invariably

fatal; autosomal recessive;

panracial but especially

prevalent among Northern

European Jews.

Demyelination; progressive

paralysis and dementia; death

usually occurs within the first

decade; autosomal recessive

inheritance.

Mental retardation;

demyelination; psychomotor

retardation; failure to thrive;

progressive spasticity; globoid

cells in brain white matter;

invariably fatal; autosomal

recessive inheritance.