Metabolic Diseases Flashcards
- infant with lethargy and poor feeding, seizures, freq infx
- *odor of sweaty feet
- Tx is protein restriction
Isovaleric acidemia
- incr ammonia
- ketonuria
- anion gap acidosis
- present in first 2d of life after protein is introduced
- Tx with hydration
- Dx: urine organic acids
- may have decr plts and WBC
Organic academics
- autosomal recessive
- hypoglycemia, hepatomegaly
- no reducing substances, no ketones, nl amino acids
- presents during periods of fasting
- Dx with acylcarnitine profile
Defects in FA metabolism
MCAD, LCAD, VLCAD
- incr ammonia, no acidosis, no ketones
- hypotonia, coma, encephalopathy, resp alkalosis, lactic acidosis
- Tx: decr protein intake, incr glucose intake
Urea cycle defects
- infant with poor feeding, FTT, abdominal distension, hypoglycemia, gram negative sepsis, positive urine reducing substances
- deficiency of GALT
- Dx: measuring GALT in RBCs
- Tx: galactose free diet
- may result in cataracts, MR, and liver disease
Galactosemia
- seizures just after a meal
- stays away from sweets
- Tx: avoidance of fructose
Fructose intolerance
- decr glucose, acidosis, incr tone, HSM, sz, tachypnea, lethargy
- glycogen storage dz
- urine smells
- onset during first week of life
- Elevated: Valine, Isoleucine, Alloisoleucine, Leusine
Maple syrup urine disease
- macrosomia
- microcephaly
- macroglossia
- visceromegaly
- omphalocele
- hypoglycemia
Beckwith-Wiedeman Syndrome
-infant with hypoglycemia and ketonuria
Adrenal insufficiency
- infant with hypoglycemia
- vomiting
- FTT
- hepatomegaly
- reducing substances
Galactosemia
- lactic acidosis
- rash
- alopecia
- neuro Sx: ataxia –> coma
Biotinidase deficiency
- dark diaper (urine homogentistic acid)
- Tx: diet low in phenylalanine and tyrosine
Alcaptonuria
- dislocated lens, skeletal abnl, cognitive defects
- Test: urine
- Tx: pyridoxine or diet high in cysteine and low in methionine
Homocysteinuria
- asymptomatic x few months
- presents with vomiting, irritability, eczema, musty urine odor
- results in microcephaly, CHD, low birthweight, MR
- Tx: low phenylalanine formula
PKU
- coarse facies
- corneal clouding
- Autosomal recessive
Hurler’s Syndrome
- coarse facies
- X-linked MPS
Hunter’s Syndrome
- autosomal recessive
- manifests during 1st year of life
- urine with incr heparin sulfate
- HSM
San Filippo Syndrome
- skeletal involvement
- corneal clouding
- normal intelligence
Morquio Syndrome
- FHx
- recurrent infx
- developmental delay
- FTT
Purine/Pyrimidine Dz
ADA Deficiency
Lesch-Nyhan Syndrome
- hypoglycemia and distended abdomen
- doll like or cherubic face
- consanguinity
- poor growth, sz, incr lipids
- Labs: incr lactic acid and uric acid
- Tx: frequent snacks and meals, cornstarch after age 2
VonGierke Dz (GSD Type 1)
-difficult to manage seizures
-peroxisomal dz
EEG burst suppression
-uncontrolled hiccups
Tx: ativan, dextromethorphan, sodium benzoate
Non-ketotic hyperglycinemia
- deficiency in lysosomal breakdown of glycogen
- 1 mo or younger- nl at birth
- floppy, FTT, hepatomegaly, macroglossia, cardiomegaly, hard muscles
- death from respiratory failure
Pompe Disease (GSD II)
- autosomal dominant (50%)
- deficiency fo LDL receptors
- Xanthomas after age 10
- NOT associated with obesity
Familial Hypercholesterolemia
- skin nodules and painful joints
- first week of life
- cherry red spot in macula
Farber’s Disease
- defective lipoprotein mechanism
- triglyceride and cholesterol esters in body tissues
- FTT, HSM, calcified adrenal gland **
Wolman Disease
- low serum copper
- low serum ceruloplasmin
- high tissue copper
- twisted hairs
- recessive
Menkes Kinky Hair Disease
-jaundice, hepatomegaly, and neurologic deterioration
-deposition of copper in liver and brain
_KF rings
-Dx: liver BX
-low ceruloplasmin
Wilson’s Disease
- organomegaly, bone pain, bruising, short stature
- thrombocytopenia, osteosclerosis, lytic lesions
- decr B glucosidase activity
Gaucher Disease
-deficiency in enzyme BH4 (tetrahydrobioptin)
PKU
- error in methionine metabolism
- thin, scoliosis, posteriorly dislocated lens, cognitive impairment
- at risk for pulmonary embolus
- responds to pyridoxine Tx
Homocystinuria
