Science Quiz / Inborn Metabolic Diseases

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QUIZ: Can you identify Inborn Metabolic Diseases?

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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'

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