Metabolic Disease
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Introduction
Metabolic diseases are inherited problems with intermediary metabolism. They are often autosomal recessive.
The Case of...
Differential Diagnosis
- congenital adrenal hyperplasia
- congenital hypothyroidism
- galactosemia (1:60,000)
- sickle cell disease
- pnenylketonuria (PKU) 1:10,000
- maply syrup urine disease
- homocystinuria
- biotinase deficiency
History and Physical Exam
- history
- physical exam
History
They can present in newborns with acute, unexplained illness, or as developmental delay or failure to thrive in older children.
Potentially worrying symptoms include:
vomiting and acidosis after feeding: amino acid or carbohydrate disorders
hepatosplenomegaly: liver accumulation of metabolites
encepalopathy, MR, megencephaly: mucopolysaccharide disorders
severe acidosis: aminoaciduria
hyperammonemia: urea cycle, organic acid disorders
growth retardation
hypoglycemia, seizures, coma
autonomic signs and symptoms: pallor, tremor, sweating
odor: burt sugar, sweaty feet, musty, ammonia
skin: changes in pigmentation, rash, xanthomas
hair: alopecia, hirsutism, abnormal patterns
eyes: corneal clouding or crystals, lens cataracts, dislocation, retinal spots or pigmentation, optic atrophy
Physical Exam
Investigations
- lab investigations
- diagnostic imaging
Lab Investigations
Electrolytes
arterial blood gases
CBC, differential, smear
blood glucose
lactate
ammonium
plasma Ca and Mg
urine ketonuria, urate, nitroprusside, mucopolysaccharide, oligosaccharide screens
CSF glycine, free fatty acids
Diagnostic Imaging
Management
Pathophysiology
The Case of...
Additional Resources
Topic Development
created: DLP, Aug 09
authors: DLP, Aug 09
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