Disorder
|
Onset/features
|
Defective gene/protein
|
Diagnostic test
|
Specific treatment
|
Cystinosis | Mid/late infancy, poor growth, may be blond/fair hair, corneal cystine crystals |
CTNS/cystinosin | Leucocyte cystine concentration | Cysteamine |
Tyrosinaemia | Infancy, poor growth, hepatic enlargement and dysfunction | Fumaryl acetoacetate hydrolase | Plasma amino acids, urine organic acids (succinyl acetone) | Nitro-trifluoro-benzoyl cyclohexidine (NTBC) |
Lowe's syndrome | Birth, X linked, cataracts, hypotonia, developmental delay | Inositol polyphosphate 5-phosphatase | Clinical and molecular genetic diagnosis | |
Galactosaemia | Birth, jaundice, encephalopathy | Galactose 1-phosphate uridyl transferase | Red cell galactose 1-phosphate uridyl transferase | Galactose free diet |
Fructosaemia | Rapid onset after fructose given, vomiting, hypoglycaemia, hepatomegaly | Fructose-1-phosphate aldolase B | Hepatic fructose-1-phosphate aldolase B | Fructose and sucrose free diet |
Fanconi–Bickel syndrome | Infancy, failure to thrive, hepatomegaly, hypoglycaemia rickets, glycosuria, galactosuria |
GLUT2/Glut2 (facilitated glucose transporter) | | ? Monosaccharide diet |
Dent's disease | Child/adulthood, X-linked, hypercalciuria, nephrocalcinosis |
CLC-5/CLCN5 (voltage gated chloride channel) | Molecular diagnosis | ? Potassium citrate/thiazide |
Mitochondrial disorders | Usually in infancy, may be multisystem dysfunction | Mitochondrial DNA | Lactate, pyruvate, muscle enzymology | |
Wilson's disease | Childhood, hepatic disease, neurological signs, Kayser–Fleischer rings |
Wc-1/P-type copper transporting ATPase | Copper, caeruloplasmin | D-penicillamine |