Metabolic Disease in Kids

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  1. Phenylketonuria
    • d/o amino acid metabolism (AR)
    • phenylalanine can't be converted to Tyr (becomes essential)
  2. Phenylketonuria: accumul, def, features
    • Accumulate: phenylalanine & metabolites
    • Deficiency: phenylalanine hydroxylase (rarely cofactor tetrahydrobiopterin)
    • Distinct Features: fair hair/skin, blue eyes, mousy odor; MR
  3. Homocystinemia/ Homocystinuria
    • d/o amino acid metabolism (AR)
    • homocystein present in greater than trace amts in urine
    • homocysteine not remethylated to methionine
  4. Sx of Tyrosine deficiency
    • lethargy
    • anorexia
    • anemia
    • rashes
    • diarrhea
  5. Homocystinemai/ Homocystinuria Accumul, Def, Features
    • Accumulation: homocystine, methionine
    • Def: usually cystathionine synthase
    • Features: ectopia lentis (subluxation of lens, signaled by iridodonesis - quivering of iris- & myopia); FTT & developmental delay
  6. Homocystinemia/ -uria Dx & Tx
    • Dx: usually made after 3 yrs of age by elevated methionine & homocysteine in body fluids
    • Tx: high dose Vit B6, restrict methionine intake; betaine if unresponsive to B6 therapy
  7. Branched chain aa's
    • leucine
    • isoleucine
    • valine
  8. Maple Syrup Urine Disease
    • d/o branched chain aa metabolism
    • defect in decarboxylation of leu, iso, & val by branched chain ketoacid dehydrogenase
  9. Maple Syrup Urine Disease - Accum, Def, Features
    • Accumul: branched-chain aa's: Leu, Iso, Val
    • Def: branched-chain ketoacid dehydrogenase
    • Feature: odor of maple syrup in urine, sweat, cerumen
  10. S/Sx Maple Syrup Urine Disease
    • poor feeding/vomiting 1st week of life
    • alternating hypertonicity & flaccidity, convulsions, hypoglycemia
    • odor of maple syrup in urine, sweat, cerumen
  11. Hartnup's - Accum, Def, Features
    • Accumul: deficiency of neutral aa's: tryptophan
    • Def: Na-dependent aa transport system in renal tubules & intestines
    • Features: most asymptomatic
  12. Hartnup's Disease definition
    inherited defect in transport of neutral amino acids by intestinal mucosa & renal tubules b/c deficient activity of Na-dependent transport system
  13. Gaucher's
    • most common lysosomal storage disease
    • splenomegaly most common presenting sign
    • def: beta-glucosidase
    • accumul: glucocerebgroside
    • pancytopenia; bone fx's, pain; 'crinkled paper' cytoplasm
  14. GM1 gangliosidoses
    • def: betagalactosidase
    • accumul: GM1 ganglioside
    • 50% cherry red spot on macula
    • HSM
    • rashes, edema, coarse facial features, skeletal abnorm
    • blind & deaf by 1 yr, death by 3-4 yrs
  15. GM2 gangliosidoses
    • Tay-Sachs: deficiency alpha subunit hexoseaminidase A, accumul GM2 ganglioside in brain
    • Sandhoff disease: accumul GM2 gnaglioside in brain & peripheral organs; defect beta subunit hexoseaminidases A + B
    • Dx: 5-6 mos; death by 3-5 yrs
    • cherry red spot on macula; hyperacusis; froglike position
    • NO organomegaly in tay sachs; HSM in Sandhoff
  16. Nieman Pick
    • lysosomal storage disease
    • def: sphingomyelinase
    • accumul: sphingomyelin & cholesterol
    • 50% cherry red spot on macula; HSM, neonatal jaundice
    • dx by 4 mos, death by 3 yrs
    • neuro signs/deterioration
  17. Fabry's
    • lysosomal storage disease
    • def: ceramide trihexosidase or alpha-galactosidase A
    • accumul: glycosphingolipids in vascul endothelium, nns, & organs
    • angiokeratomas (dark, red, punctate macules don't blanch, clusters, b/l symmetric naval & buttocks); telenangiectasias
    • 1ST SIGN: severe neuropathic limb pain
    • asymmetric corneal deposits
    • progressive kidney failure (bx w/ lipid)
  18. Krabbe's
    • lysosomal storage disease
    • def: galactosyl-ceramide beta-galactosidase or galactocerebrosidase
    • accumul: ceramide galactose w/i lysosomes white matter
    • progressive CNS degeneration/ sx w/i 1st 6 mos life
    • optic atrophy, spasticity, early death
    • globoid cells in areas of demyelination
    • Stem cell transplant prior to onset neuro sx
  19. Farber's
    • lysosomal storage disease
    • def: ceramidase
    • accumul: ceramide in periph organs, joints, LNs
    • dx at 1 yr
    • nodules (granulomas w/ ceramide) on joints, vocal cords (hoarse, resp complications)
    • severe MR & motor retardation
  20. Hurler's
    • mucopolysaccharidoses - lysosomal storage
    • normal at birth, dx at 1+yrs
    • excess urinary excretion GAGs
    • progressive mental & physical deterioration
    • coarse features, corneal clouding, stiff joints
    • organomegaly, skeletal abnormalities
  21. Von Gierke's
    • glycogen storage disease
    • def: glucose-6-phosphatase
    • S/Sx: fasting hypoglycemia, hepatomegaly, elevated serum lactate, uric acid, cholesterol, TGs; renal complications
    • Dx: 5 mos; administer epi, glucagons, galactose, et doesn't provoke normal hyperglycemic response
    • Tx: freq high carb meals
  22. McArdle's
    • glycogen storage disease
    • deposit glycosgen in skeletal mm.
    • S/Sx: weak/cramp skeletal mm during/after exercise; no rise blood lactate during ischemic exercise; '2nd wind' w/ initation FA metabolism
    • Presents: adolescence/ early childhood; mm bx & assay
    • myoglobinuria, elevated CK at rest
    • Tx: sucrose prior to aerobic exercise
  23. Pompe's
    • glycogen storage disease
    • Def: alpha-1,4-glucosidase; can't convert mannose-> glucose
    • S/Sx: rapid progressive cardiomyopathy w/ cardiomegaly, macroglossia, hypotonia, hepatomegaly; death 1-2 yrs old
    • Juvenile form = milder, slowly progressive to myopathy, no cardiac abnormality; death 2/2 resp failure
    • Dx: ECG, EMG
  24. Galactosemia
    • S/Sx: cataracts, HSM, MR, sepsis (e.coli)
    • Dx: jaundice, hepatomegaly, vomiting, hypoglycemia, convulsions, lethargy, irritable, feeding difficulty, poor wt gain, diarrhea, aminoaciduria, hepatic cirrhosis, ascites, MR
    • Tx: exclude galactose & lactose from diet
  25. Fructosuria
    • def: fructokinase; elevated fructose & metabolite levels
    • Asymptomatic till fructose introduced into diet; fructosemia & fructosuria
  26. Lesch Nyhan
    • X-linked recessive; defect purine metabolism
    • def: HGPRT
    • S/Sx: retardation of motor development, spastic cerebral palsy, self injurious behavior; hyperuricemia, uricosuria, uriary tract calculi, nephropathy, tophi, gouty arthritis
    • Dx: dx ~3mos when delayed motor development apparent; serum uric acid levels
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Metabolic Disease in Kids
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