What are the requirements for metabolic syndrome?
One of the following:
- diabetes mellitus
- impaired glucose tolerance
- impaired fasting glucose
- insulin resistance
& Two of:
- BP >140/90
- Dyslipidemia either increase LDL or decrease HDL
- Central obesity-BMI>30 or waist hip ratio >0.85 for women and >0.90 men
- Microalbuminuria
What kind of abnormalities suggest inborn errors of metabolism?
- General: dysmprphic features,deafness, hydrops, self mutalitaion, abmormal body/urine odor/hair growth, hepatosplenomegaly
- GI: poor feeding recurrent vomiting and jaundice
- Eyes: cataracts, cherry red macula, glaucoma, dislocate lens
- Neurologic: hypo/er tonia, coma, lethargy siezures, not meeting dev milestones
- MM joints: myopathy abnormal mobility
Hartnup Disease?
Effects the absorption of non polar amino acids in particular tryptophan.
- Tx: high protein diet
- Sx: Diarrhea, mood swings, red scaly rash especially with sun, photosensitivity, short, uncoordinated movements
MSUD?
Deficiency in Branched chain ketoacid dehydrogenase
- sweet smelling urine “maple syrup”
- Tx: low protein diet
- Sx: poor feeding vomiting lethargic ataxia delayed dev, siezures coma death
PKU
Autosomal recessive disorder deficient in phenylalanine hydroxylase
- Sx: intellectural disorder, siezures
- musty urine/sweat due to phenylacetate
- Tx: low protein diet
Phenyllacatate and phenylacetate disrupt neurotransmission and block aa transport in the brain and myelin formation
Normal at brith bc mother metabolizes extra phenylalanine early detection is critical modified diet with severe decrease protein intake
Severe mental retardation at six months siezures and decrease pigmentation of hair and skin eczema and mental retardation
Albinism?
Absence or defect in tyrosinase
- Sx: sunburns skin cancer photophobia, nystagmus, ambyopia
