H. Stibler et al., CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME - CLINICAL EXPRESSION INADULTS WITH A NEW METABOLIC DISEASE, Journal of Neurology, Neurosurgery and Psychiatry, 57(5), 1994, pp. 552-556
A new group of recessively inherited metabolic disorders affecting gly
coprotein metabolism has been identified-the carbohydrate-deficient-gl
ycoprotein (CDG) syndromes. Here the course and clinical expression of
CDG syndrome type I in 13 patients who have passed the age of 15 year
s are described. All presented with early onset psychomotor retardatio
n, in most cases combined with slight facial dysmorphic features, some
degree of hepatic dysfunction, and in one case, pericardial effusion.
About half of the patients had subcutaneous lipodystrophy and comatos
e or stroke-like episodes during childhood. After the age of 15 the di
sease was mainly characterised by neurological symptoms consisting of
non-progressive ataxia associated with cerebellar hypoplasia, stable m
ental retardation, variable peripheral neuropathy, and strabismus. One
third of the patients had generalised seizures, usually sporadic, and
all had retinal pigmentary degeneration. In all cases there was more
or less pronounced thoracic deformity and no female had passed puberty
. Also, the oldest female showed premature aging. Severe internal orga
n symptoms, which are common in pediatric patients, were absent. All p
atients had highly raised serum concentrations of the biochemical mark
er carbohydrate-deficient transferrin, which can be used to verify the
diagnosis. It is concluded that after childhood, CDG syndrome type I
is a largely non-progressive disease compatible with a socially functi
oning but dependent lifestyle.