Metabolic Disorders Flashcards
What is the most likely diagnosis for pt presenting with coarse facial features, frequent URIs, skeletal deformities, joint stiffness, macrocephaly, hearing loss, corneal clouding, congenital dermal melanocytosis, white nodules and papules, hernias, slowing of developmental progression and thickened heart valves/ cardiomegaly on ECHO?
Hurler’s syndrome
Hunter’s syndrome is similar except less severe and without corneal clouding
What is the most likely diagnosis for pt presenting with intellectual disabilities, developmental delay, poor growth, seizures and sparse short hair that is lightly colored and easily broken?
Menkes Disease
(X-linked recessive dysfunction of copper metabolism)
(dx: decreased serum copper levels, decreased ceruloplasmin levels that increase with copper administration)
What is the most likely diagnosis for pt presenting with developmental delay, intellectual disabilities, dystonic movements, hypotonia, hyperreflexia, recurrent vomiting, and self multilating behaviors?
Lesch-Nyhan syndrome
(X-linked disorderd due to absence of HGPRT/ hypoxanthine guanine phosphoribosyltransferase enzyme)
(dx: excessive levels of uric acid)
What is the most likely diagnosis for pt presenting with hypoglycemia after period of fasting/ stress, hepatomegaly, no urinary reducing substances, no urine ketones, acute altered mental status, and developmental delay?
Fatty Acid Oxidation Disorder
(most likely MCAD deficiency)
(dx: acylcarnitine profile showing elevated C8, C18:1, and C10:1)
What is the most common bacteria to cause sepsis in a pt with galactosemia?
E. Coli
What is the most likely diagnosis for newborn presenting with poor feeding, poor weight gain, persistent vomiting, cataracts, positive reducing substances, hepatomegaly, and hyperbilirubinemia?
Galactosemia
(due to deficiency in galactose 1-phosphate uridyltransferase)
(tx: soy based/ lactose free formulas)
What is the most likely diagnosis of newborn presenting with microcephaly with narrow bifrontal diameter, broad nasal tip with anteverted nares, hypertelorism, ptosis, cleft palate, micrognathia, low set ears, hypospadias and syndactylyl/ polydactyly?
Smith-Lemli-Optiz syndrome
(autosomal recessive disorder of cholesterol)
(dx: low total cholesterol, elevated 7-dehydrocholesterol)
(die by 18 months of age)
What is the most likely diagnosis for pt (5-15 years old) presenting with academic difficulty, impulsivity, behavioral outbursts with new onset gait abnormalities, slurred speech, fine motor deterioration, and hyperpigmentation?
Adrenoleukodystrophy
(X-linked recessive disorder of peroxisomal degradation of fatty acids)
(dx: elevated very long chain fatty acids)
(hyperpigmentation due to increased ACTH from associated cortisol deficiency results in increased melanin)
What is the deficiency associated with Hurler’s syndrome (MPS- mucopolysaccharidosis type 1)?
alpha-L- iduronidase deficiency (lysosomal enzyme)
tx: bone marrow transplant to halt progression or enzyme replacement therapy but does not cross BBB
What is the most common radiographic finding associated with Hurler’s syndrome?
Dysotosis multiplex (cartilage and bony defects of vertebral bodies)
What is the best initial treatment for Homocystinuria?
Pyridoxine (Vitamin B1 enhances cystathionine beta synthase enzyme)
(if does not improve, add folate and vitamin B12 to enhance effects)
What is the most likely diagnosis for infant presenting with lethargy, vomiting, poor feeding, found to have metabolic acidosis with ketosis and bittersweet aroma in urine and earwax?
Maple Syrup Urine Disease
dx: elevated L-alloisoleucine
(tx: branched chain amino acid restriction)
What is the most likely diagnosis for pt of Eastern European Jewish ancestry/ French Canadian/ Cajun descent presenting with vision loss, decreased stamina, hypotonia, history of exaggerated Moro at 3-6 months old, and cherry red spot on retina?
Tay-Sachs Disease
Dx: decreased hexoaminidase A
What is the most likely diagnosis for infant presenting with marked hypotonia, marked cardiomegaly, muscle weakness, hepatomegaly, normal blood glucose level and normal mental development after being found to be normal at birth?
Pompe disease (type 2 glycogen storage disease)
(autosomal recessive deficiency in alpha-glucosidase)
(tx: enzyme replacement therapy; high protein diet in older forms)
What is the likely diagnosis for a newborn developing lethargy, hypotonia, metabolic acidosis with ketosis and elevated ammonia at 2-3 days of life?
Organic Acidemia
(Methylmalonic acidemia or propionic acidemia)
(dx: urine organic acids)
