|
TABLE II -
ALERTING SIGNS FOR COMMON GENETIC METABOLIC DISEASES
|
| Disease |
Alerting sign |
Fatty
acid oxidation defects
|
Hypoglycaemia
without appreciable acidosis; some types are associated
with cardiomyopathy, and liver enlargement |
3-methylglutaconic
aciduria
|
Severe early
infantile pyramidal or extrapyramidal tract disease, and
in some neonatal severe hypoglycemia with lactic acidosis;
subtle dysmorphic findings |
HMG
CoA lyase deficiency
|
75
per cent appear within first two days of life with devastating
hypoglycemia and lactic acidosis but with no ketone in the
urine |
Pyruvate
carboxylase deficiency
|
Severe and
persistent lactic acidosis with mild or no hypoglycaemia,
few if any CNS dysmorphia or symptoms |
Glutaric
aciduria type I
|
Appears
at 3-8 months after a catabolic event such as diarrhoea
or infections with dystonia and chorea in a macrocephalic
infant; MRI reveals wide opercular sign |
| Isovaleric
academia |
Similar
in appearance to methylmalonic academia with sweaty feet
odour during the attack, spastic infant with marked thrombocytopenia |
| * The
physician must include these unusual disorders in his diagnostic
considerations. |
