35. Inborn Errors of Metabolism 2 Flashcards
How does pyruvate carboxylase deficiency present?
Severe neonatal: Seizures, coma, lactic acidosis, mild hypoglycaemia
Mild infantile: Psychomotor retardation, mild lactic acidosis
How would pyruvate carboxylase or fructose-1,6-bisphosphate deficiency be diagnosed?
Increased lactate
Ketosis
How does fructose-1,6-bisphosphate present?
Acute onset with hepatomegaly
Hygoglycaemia, seizures, coma
What are the diagnostic criteria for mitochondrial diseases?
Type of inheritance
Symptoms: encephalopathies, myopathies, cardiomyopathies
Lactic acidosis
Respiratory chain deficiency diagnosis
What does deficiency of pyruvate dehydrogenase complex present as?
Progressive encephalopathy Brain malformation Psychomotor retardation Muscular hypotonia Epilepsy
How is a deficiency of pyruvate dehydrogenase complex diagnosed?
Increased plasma lactate
Enzyme analysis
What are the general symptoms of glycogen storage disorders?
Hypoglycaemia
Muscle pain, cramps, weakness
What is sphingolipidoses?
Lysosomal lipid storage disease
Defect in degradation of sphingolipids
Accumulation of sphingolipids
What is mucopolysaccharidoses?
Deficiency in lysosomal enzymes involved in break down of glycosaminoglycans
What are the symptoms of MPS disorders?
Dysmorphology
Severe bone disorders
Learning difficulties, behavioural problems, dementia
How is mucopolysaccharidoses diagnosed?
Urinary GAG analysis
Enzyme assay
Mutation analysis
What do peroxisomal disorders result in?
Accumulation of VLCFA and Phytanate
What are Congenital Disorders of Glycosylation characterised by?
Abnormal glycosylation caused by deficiency of enzymes in oligosaccharide synthetic pathway
