Science Quiz / Inborn Metabolic Diseases

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Can you identify Inborn Metabolic Diseases?

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

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