TABLE 3

Selected Clinical Findings or Laboratory Abnormalities Suggesting a Metabolic Disorder3

Failure of appropriate growth
Recurrent unexplained illness
Seizures
Ataxia
Loss of psychomotor skills
Hypotonia
“Coarse” appearance
Eye abnormalities (cataracts, ophthalmoplegia, corneal clouding, abnormal retina)
Recurrent somnolence/coma
Abnormal sexual differentiation
Arachnodactyly
Hepatosplenomegaly
Metabolic/lactic acidosis
Hyperuricemia
Hyperammonemia
Low cholesterol
Structural hair abnormalities
Unexplained deafness
Bone abnormalities (dysostosis, occipital horns, punctuate calcifications)
Skin abnormalities (angiokeratoma, “orange-peel” skin, ichthyosis)