metabolic disease Flashcards
signs of hyperammoanaemia
tachypnoea
reduced LOC
irritability
cerebral oedema
what is PKU? how acquired?
autosomal recessive - chromosome 12
disorder of phenylalanine metabolism - enzyme defect
++ phenylalanine → symptoms
PKU - features
presents by 6mo developmental delay/regression seizures eczema musty urine + sweat
PKU - diagnosis
heel prick
phenylalanine in blood ++
phenylpyruvic acid in urine
inborn errors of metabolism - presentation
tachypnoea - acidosis or hyperammonaemia
reduced LOC - hyperammonaemia
what does a high anion gap indicate?
metabolic acidosis
what types of inborn errors of metabolism can raise ammonia?
urea cycle disorders
organic acidaemias
urea cycle disorders - findings
ammonia +++ liver dysfunction resp alkalosis (as ammonia = resp stimulant)
organic acidaemias - findings
ammonia +
metabolic acidosis that doesn’t respond to fluids
raised anion gap due to abnormal acid
what are some common organic acid disorders?
methylmalonic acidaemia
proprionic acidaemia
PKU - management
restrict phe - v low protein diet + amino acid supplements
monitor blood phe
PKU - prognosis
good - normal IQ + life
acute encephalopathy - urea cycle disorders - presentation
presents during neonatal period or infections
grunting + drowsiness
hypoglycaemia
metabolic acidosis
hyperammonaemia
what is a urea cycle disorder?
normal - amino acids → ammonia → urea
UCD - can’t convert ammonia to urea → builds up
what is galactosaemia? features?
liver disease presents at 4-10 days: liver disease - jaundice, bruising, hepatomegaly, PT+ poor feeding cataracts
