|
TABLE II -
ALERTING SIGNS FOR COMMON GENETIC METABOLIC DISEASES
|
| Disease |
Alerting sign |
Glycogen storage type
1
|
Type 1a: Severe, and
early hepatomegaly reaching iliac crest, early morning hypoglycemia
and lactic acidosis. Type 1b: same features; frequent infections
due to neutropenia |
Galactosemia
|
Early hepatomegaly,
jaundice, failure to thrive, cataract |
Hypercholesterolaemia
type I
|
Eruptive xanthomas, family
history of untimely death due to cardiac or CNS infarcts |
Maple syrup
urine disease
|
Classical
form: Onset 1-2 weeks after birth with lethargy, coma, alternating
tone changes, seizures with no associataed hypoglycemia,
acidosis nor hyperammonemia |
Classic PKU
|
Fair features
in an Arab child, with 3-9 months onset of myoclonic seizures,
mental handicap and aggressive behaviour later in childhood
in untreated patients. |
Homocystinuria
|
Shy infant
with early dislocation of the lens downwards, the arachnodactyl
and slender features appear later in childhood, thrombotic
CNS events mainly with dystonia |
6-PTS deficient PKU
|
Myclonus, bradykinesia,
rigidity, cardiopulmonary disturbances leading to ICU admissions
in early infancy |
Non-ketotic hyperglycinemia
|
Severely
hypotonic newborn with CNS anomalies and myoclonic seizures
|
Methylmalonic academia
|
Two thirds present neonatally
with devastating metabolic disease with ketoacidosis and
hyperammonaemia; spastic infant |
| Proprionic academia |
Nearly 90 per cent present
neonatally similar to methylmalonic academia, except severe
hypotonia and thrombocytopenia are hallmarks of the disease |
Biotinidase deficiency
|
Nearly half will present
with early infantile myloclonic seizures; early infantile
loss of hair, eyebrows and eyelashes with dermatitis |
| Canavan's disease |
Early infantile macrocephalic
leukodystrophy with severe pyramidal tract signs and blindness |
