Clinical Flashcards by Hannah Ashworth

Q

What enzyme is missing in galactosemia? What are some symptoms? How do you treat it?

Note: inherited AR

A

UDP-glucose -> galactose-1-P uridyltransferase; hepatomegaly, cataracts, CNS damage; removal of galactose from diet (lactose)

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Q

An indirect problem from fructose metabolism is gout. Why?

A

ADP and AMP is broken down, which leads to uric acid buildup

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Q

What disease?

nausea/vomiting after eating foods w/ fructose, hypoglycemia, potential liver damage, AR

A

aldolase B deficiency (fructose intolerance)

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Q

What disease?

relatively benign, fructose eliminated in urine w/o metabolism

A

fructokinase def. (essential fructosuria)

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Q

What are the 2 vitamin deficiencies?

muscle weakness and mental confusion
dry, cracked lips and mild dermtitis

A

B1 - beriberi (thiamine pyrophosphate)

2. FAD (riboflavin/B2)

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Q

What is the disease, and what enzyme is deficient?

glycogen accumulates in liver/renal tubule cells, hypoglycemia, lactic acid, ketosis, and hyperlipemia

A

Type Ia - Von Gierke; glucose-6-phosphatase

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Q

What is the disease, and what enzyme is deficient?

accumulation of glycogen in lysosomes; child: muscle hypotonia and death from heart by 2; adult: muscle dystrophy

A

Type II - Pompe; lysosome α1->4 and α1->6 glucosidase

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Q

What is the disease, and what enzyme is deficient?

hypoglycemia, hepatomegaly, accumulation of a-dextrin, weak muscles

A

Type IIIa-Cori; liver and muscle debranching enzyme

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Q

What is the disease, and what enzyme is deficient?

hepatosplenomegaly, accumulation of branched sugar, death from heart or liver by 5 years of age

A

Type IV-Andersen; branching enzyme

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Q

What is the disease, and what enzyme is deficient?

poor exercise tolerance from low blood lactate, high muscle glycogen

A

Type V-McArdle; muscle phosphorylase

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Q

What is the disease, and what enzyme is deficient?

hepatomegaly, accumulation of glycogen in liver, mild hypoglycemia, “good”

A

Type VI-Hers; liver phosphorylase

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Q

What is the disease, and what enzyme is deficient?

XR; found in African Am., Mediterranean, and Asian; under stress, drug treatment or ingestion of fava beans leads to hemolytic anemia because there’s decreased NADPH

A

glucose-6-P dehydrogenase deficiency

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Q

What is the group of diseases?

absent peroxisomes in hepatocytes and fibroblasts, accumulation of VLC FA’s, phytanic acid, and bile acid intermediates/plasmalogen def, mutations in PEX 2, 5, 6, and/or 12

A

zellwegger spectrum disorders

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Q

What is the disease?

craniofacial, neuro, and ocular problems, hypotonia, epileptic seizures, severe psychomotor retardation, micropolygyria (impaired neuronal migration and severe demyelination); patients die by end of year 1

A

Zellwegger Syndrome

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Q

What is the disease?

milder ZS symptoms w/ adrenal atrophy

A

neonatal adrenoleukodystrophy

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Q

What is the disease?

no neonatal abnormalities and only mild dysmorphia; mental retardation, retinitis pigmentosa, neurosensory deafness, growth retardation

A

infantile refsum’s disease

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Q

What is the disease?

X-linked, postlingual progressive sensorineural deafness, dystonia, spasticity, dysphagia, mental deterioration, paranoia, and cortical blindness

A

human deafness dystonia syndrome aka Mohr-Tranebjaerg

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Q

What is the disease?

X-linked, infantile cardiomyopathy, abnormal cardiolipin composition, skeletal myopathy, neutropenia, and growth retardation; could be defect in phospholipid acyltransferase aka tafazzin that normally remodels cardiolipin by linoleate transfer

A

Barth syndrome

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Q

What is the disease, and what is the DNA mutation?

progressive myoclonic epilepsy, mito. myopathy w/ ragged red fibers, and slowly progressive dementia; late childhood to adult

A

MERRF; point mutation in tRNA-Lysine

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Q

What 2 drugs block both PLA2 and cyclooxygenase?

What other 2 drugs also block cyclooxygenase?

A

cortisone and prednisone

aspirin and ibuprofen

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Q

Carnitine def. is the decreased ability to use LCFA as fuel, which means you get an accumulation of toxic amounts of free FA’s. What are the 5 causes of this deficiency?

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A

liver dis. (where carnitine is made)
malnutrition or vegetarian diet (no meat)
increased requirement - burns or pregnancy
hemodialysis - made in kidneys; you’re on this, you have bad kidneys. 5. congenital def.

Q

In ability to use LCFA as fuel, as in carnitine def., impairs the body the ability to do what?

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A

make glucose during a fast –> hypoglycemia, coma, and death

sustain exercise

Q

What is the disease, and what is the deficient enzyme?
retinitis pigmentosa, progressive peripheral neuropathy, skeletal malformations, severe motor weakness, peroxisomes can’t attack microbes

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A

Refsum disease; peroxisomal enzyme responsible for 1 of the starting steps in oxidation of phytanic acid

Q

Absence of insulin, as in diabetic ketosis, can cause what 2 major biochemical problems? What does the liver produce in diabetic ketosis?

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A

liver can’t provide oxaloacetate and insulin normally decreases FA metabolism

large amount of ketone bodies

What up regulates the transcription of PEPCK in adipose tissue? What down regulates it? What up regulates it in the liver?

thiazolidinediones (pill that controls diabetes); glucocorticoids (goes up during stress) glucocorticoids

What disease has an accumulation of ceramide?

Farber's disease

What is the disease? failure to degrade gangliosides due to lack of hexoamininidase A, buildup of gangliosides in nervous system --> disability and death

Tay-Sachs

What is the disease? - accumulation of sphingomyelin due to defect in sphingomyelinase; three types: A: dis. begins during infancy, enlarged liver, and spleen, failure to thrive, progressive detrioration of Nervous System B: less severe C: not diagnosed until adulthood

Niemann-Pick disease

What is the disease? macrophages become filled w/ undigested glucocerebroside, spleen and liver enlarge, fatigue, bleeding problems, fragile bones

Gaucher's disease

What groups of people may have lactose deficiency? What other group of people have decreased lactase?

infants, Mediterranean, African black, Native American, Mexican American, and Asian older adults

What cycle is affected with any of the following deficiencies? What does a defect in this cycle cause? argininosuccinate lyase def. (treat w/ arginine), carbamoyl phosphate synthetase I def., ornithine transcaramoylase def., argininosuccinate synthase def.

urea cycle hyperammonemia

What is the disease? def. of the dehydrogenase enz. that helps to breakdown isoleucine, leucine, and valine; these accumulate in blood and urine; distinct odor; mental and physical deficits unless diet is restricted

maple syrup urine disease I Love Vermont maple syrup.

What is the disease? def. of homogentisate-1,2-dioxygenase, homogentisate accumulates and colors when exposed to air, toxic metabolite produced by oxidation that must be avoided: benzoquinone acetic acid, treat w/ restricting Phe and Tyr in diet, take large doses of ascorbic acid

alcaptonuria

What is the disease? def. of phenylalanine hydroxylase, phenylalanine accumulates, mental retardation if untreated, treat by Phe-restricted diet

phenylketonuria (PKU)

What is the disease? | def. of arginosuccinate lyase; lethargy, seizures, decreased muscle tension

citrullinema

What is the disease? | various enz. def., weakness, self-mutilation, liver damage, mental retardation

tyrosinemia

What is the disease? | def. of tyrosinase, absence of pigmentation

albinism

What is the disease? | def. of cystathionine β-synthase, scoliosis, muscle weakness, mental retardation, thin blond hair

homocystinuria

What is the disease? | def. of α-aminoadipic semialdehyde dehydrogenase, seizures, mental retardation, lack of muscle tone, ataxia

hyperlysinemia

What do high levels of homocysteine put you at an increased risk for? High levels indicate what enzyme is lacking? How is homocysteine excess treated?

CVD cystathionine synthase folate and vitamin B6

What is the porphyria? uroporphyrinogen III cosynthase defect, photosensitive

congenital erythropoietic

What is the porphyria? defect of ferrochelatase, photosensitive

erythropoietic protoporphyria

What is the porphyria? ALA dehydratase def. and photosensitive

ALA dehydratase def.

What is the porphyria? porphobilonogen deaminase defect and neurovisceral issues

acute intermittent porphyria

What is the porphyria? defect in coproporphyrinogen oxidase, neurovisceral, and some photosensitivity

hereditary coproporphyria

What is the porphyria? defect of protoporphyrinogen oxidase, neurovisceral, photosensitive

variegate porphyria

What is the porphyria? defect in uroporphyrinogen decarboxylase, photosensitive

porphyria cutanea tarda

What two enzymes are subject to lead poisoning? What will this lead to a buildup in?

δ ALA dehydratase and ferrochelatase; lead to buildup of δ-ALA and coproporphyrin in serum and urine

ALA dehydratase def. and acute intermittent porphyria lead to a buildup of what? Patients with either will have abdominal pain and psychiatric disturbances. How do you treat them?

ALA and porphobilonogen P-450 metabolized drugs

What occurs when bilirubin production is greater than excretion? Where is the excess deposited? What color does a person with this condition appear to be?

jaundice; skin and sclera; yellow

What can cause jaundice?

sickle cell anemia, obstruction of bile duct (backed up bilirubin), and liver damage