Science Quiz / Inborn Metabolic Diseases

Random Science Quiz

QUIZ: Can you identify Inborn Metabolic Diseases?

Quiz not verified by Sporcle

Forced Order
Also try: Perfect Squares
Challenge
Share
Tweet
Embed
Score 0/33 Timer 20:00
Clinical FeaturesMetabolic DiseaseGenetics/Treatment
self-mutilation, movement d/o, gout, normal cognition
acidosis, stroke, increased lactate, normal liver/acylcarnitine
joint laxity, dermal features; skin hyperextensibility, 'velvety' skin, hypotonia, hyperextension
liver failure, succinylacetate buildup, abnormal NBS
skeletal muscle affected, liver normal (weakness/cramping after exercise)
osmotic damage: cataracts, retinopathy, neuropathy
organic acidemia; encephalopathy, failure to thrive, vomiting/dehydration
progressive neurologic disorder; new-onset ADHD/LD; hypopigmentation
Cu deposits in brain, kidney, liver; psych; Kayser Fleischer
disability, hypertonia, musty urine, fair skin; increased Phe, decreased Tyr
adult onset; demyelination
macrocephaly, strokes, movement disorder; 'shaken baby'
delay/disability, decreased cerebellum volume, strabismus, hypoglycemia, liver disease
dysmorphism (high forehead, large fontanelle, extra skin folds), seizures, eyes, failure to thrive
neurological deterioration; dev. delay, seizures; dry skin, excess hair; scoliosis/skeletal abnormalities
wormian bones, many breaks, blue sclera, hearing loss (adult)
hypoglycemia; lactic acidosis with ketosis; neuro impairment, seizures; vomiting/dehydration
Clinical FeaturesMetabolic DiseaseGenetics/Treatment
coarse facial features; developmental delay/decline; oar-shaped ribs, hepatomegaly, short stature
eyes not affected; spectrum of intellectual disability; coarse facial features, camptodactyly
'doll face', hepatomegaly; hyper-'everything'; short, gout, nephropathy
dev. delay, myoclonia, round face, sparse hair, abnormal EEG
translucent skin, easy bruising; arterial, intestinal, and/or gastric rupture
hypoglycemia, no ketosis; increased C:6, C:8, C:10
hyperuricemia; inflammation
infantile cataracts, failure to thrive, intell. disability, jaundice, hepatomegaly
hyperammonemia; vomiting, encephalopathy, possible acidosis
6-12 months: regression, hyperacusis, cherry red spot, seizures
Marfanoid features, thromboembolism (MI, PE), vascular disease, increased homocysteine
coarse face, skeletal abnormalities, restricted joint movement, motor, death by 10
hypoglycemia, myopathy, increased C:14
acidosis/vomiting, encephalopathy/seizures, poor feeding
lesions in brainstem, basal ganglia, thalamus, spinal cord; psychomotor retardation
bone overgrowth, joint laxity, long extremities, 'thumb sing'

You're not logged in!

Compare scores with friends on all Sporcle quizzes.
Sign Up with Email
OR
Log In

You Might Also Like...

Show Comments

Extras

Top Quizzes Today


Score Distribution

Your Account Isn't Verified!

In order to create a playlist on Sporcle, you need to verify the email address you used during registration. Go to your Sporcle Settings to finish the process.