Conditions Q6 Flashcards by Stacey Hansen

Protein-energy malnutrition (PEM) involving a high carb but low protein diet

Kwashiorkor

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Edema in Kwashiorkor is due to deficient this

Serum albumin and other serum proteins

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Diet associated with Kwashiorkor

High carb but low protein = not calorie deficient

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State of the liver in Kwashiorkor

Fatty liver

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Protein-energy malnutrition (PEM) caused by undernourishment; deficient in calories and energy

Marasmus

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Protein-energy malnutrition (PEM) involving edema

Kwashiorkor

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Protein-energy malnutrition (PEM) involving wasting

Marasmus

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Tyrosine becomes and essential amino acid in this condition

PhenylKetonUria (PKU)

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Enzyme deficient in PKU

Phenylalanine hydroxylase

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Why do PKU patients have albinism?

Tyrosine is used to make melanin

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Atypical PKU is rare and due to a deficiency in this enzyme

Dihydropteridine reductase

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Disease caused by defective transport system for large neutral amino acids like Trp
Can lead to niacin deficiency
Involves proteinuria

Hartnup disease

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Hartnup disease can lead to a deficiency in this

Niacin (since some is made from Trp)

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Some niacin is made from this amino acid

Tryptophan

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Tryptophan makes some of this vitamin

Niacin (B3)

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Condition caused by defective transport of lys, arg, ornithine and cystine

Cystinuria

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Dietary restriction of these 2 compounds for cystinuria

Cysteine and methionine

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Excess of this molecule forms kidney stones

Cystine

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Hungtinton’s, Alzheimer’s, Oncogenesis, aging and lysosomal storage diseases involve a functional inadequacy in this

Ubiquitin-proteasome system (UPS)

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Glutamine and glycine are high in the blood when this is high

NH4+

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Acquired hyperammonemia can be caused by this

Severe liver disease/dysfunction

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Acquired hyperammonia compromises the liver’s ability to metabolize toxins and xenobiotics, leading to this

Hepatic encephalopathy

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Autosomal recessive congenital hyperammonemia that is the most common

Carbamoyl phosphate synthetase I deficiency

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X-linked congenital hyperammonemia that involves excessive orotic acid in the urine

OTCase deficiency

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Elevated orotic acid and ammonia are seen in this condition

Congenital hyperammonemia - OTCase deficiency

OTCase deficiency leads to these 2 compounds elevated

Orotic acid and Ammonia

Carbamoyl phosphate is involved in these 2 pathways

Urea cycle and Pyrimidine biosynthesis

Elevated orotic acid is seen in these two deficiencies

UMP synthase OTCase

Maple Syrup Urine Disease is caused by deficiency of this

Branched chain alpha-ketoacid dehydrogenase

Condition caused by deficiency of the branched chain alpha-ketoacid dehydrogenase

Maple Syrup Urine Disease

Severe niacin (B3) deficiency Skin, GI tract, CNS involvement Dermatitis, diarrhea, dementia

Pellagra

Vitamin B3 is this

Niacin

Niacin is this vitamin

Pellagra is what?

Severe niacin (B3) deficiency

Condition caused by deficiency of phenylalanine hydroxylase

PhenylKetonUria (PKU)

Albinism can be seen in this condition due to lack of tyrosine

PhenylKetonUria (PKU)

Deficiency of Dihydropteridine reductase

Atypical PKU

Condition caused by defective homogentisate oxidase Urine darkens on standing as homogentisate is oxidized and polymerized to a melanin-like substance, especially in light Symptoms: homogenstitic aciduria, arthritis (especially of the spine) that gets worse over time, dark ochronotic pigmentation of cartilage and collagenous tissue Treatment: low protein diet (phe/tyr); some may benefit from high dose vit C

Alcaptonuria

Alcaptonuria is caused by deficiency in this enzyme

Homogentisate oxidase

Homogentisate is an intermediate formed from what?

Phe --> tyr --> homogentisate

Darkened urine indicates high levels of this

Homogentisate

Darkened urine and high levels of homogentisate indicate this condition

Alcaptonuria

Condition caused by deficiency in cystathionase

Cystathioninuria

Cystathioninuria is caused by deficiency in this enzyme

Cystathionase

Homocystinuria is caused by deficiency in this enzyme

Cystathionine synthase

Condition caused by deficiency in cystathionine synthase

Homocystinuria

Homocytinuria has accumulation of this in the urine

Homocysteine

Homocytinuria has accumulation of this in the blood

Methionine and its metabolites

Which of these two has no clinical symptoms? Cystathioninuria or homocystinuria

Cystathioninuria

Which of the following results in Mental retardation, osteoporosis, myocardial infarction, and a characteristic dislocation of the lens occur? Cystathioninuria or homocystinuria

Homocystinuria

Elevated levels of methylmalonic acid occur from these 2 conditions

Methylmalonyl CoA mutase deficiency B12 deficiency

Both B12 deficiency and Methylmalonyl CoA mutase deficiency would involve elevated methylmalonic acid, but what is the key difference?

B12 deficiency would also have megaloblastic anemia

Condition caused by deficiency in fumaryl-acetoacetate hydrolase Accumulation of fumarylacetoacetate and its metabolites, particularly succinyl-acetone, in the urine

Tyrosinemia type I

Fumarylacetoacetate is an intermediate product of this

Phe --> Tyr --> Homogentisate --> Fumaryl acetoacetate

Tyrosinemia is caused by deficiency in this enzyme

Fumaryl-acetoacetate hydrolase

Dietary restriction of these amino acids is used to treat Tyrosinemia type I

Phenylalanine and tyrosine

Condition caused by transaminase deficiency in glycine metabolism Renal failure due to excessive Ca2+ oxalate kidney stones (most common type of stones)

Primary oxaluria type 1

Primary oxaluria type 1 results in renal failure due to excessive amounts of this

Ca2+ oxalate kidney stones

PLP is this vitamin

Condition where autoimmune reaction leads to destruction of intrinsic factor, and hence an inability to absorb (or reabsorb) dietary B12

Pernicious anemia

Pernicious anemia involves an inability to absorb this

B12

Pernicious anemia involves an autoimmune reaction that destroys this

Intrinsic factor (which absorbs B12)

3 characteristics of vitamin B12 deficiencies

Neurological damage Megaloblastic anemia Neural tube defects

B12 deficiencies can result in this deficiency

Folate

Condition associated with defective dopamine synthesis in the substantia nigra

Parkinson's disease

Treatment for Parkinson's which crosses the blood brain barrier

DOPA (dihydroxyphenylalanine)

Treatment for Parkinson's which does not cross the blood brain barrier

DOPA decarboxylase inhibitor

Autosomal condition that results in accumulation of adenosine and deoxyadenosine Accumulation of dATP inhibits ribonucleotide reductase

Adenosine deaminase deficiency

Deficiency of this enzyme can cause SCID

Adenosine deaminase deficiency

Adenosine deaminase deficiency can lead to inhibition of this other enzyme

Ribonucleotide reductase

Adenosine deaminase deficiency leads to accumulation of this

dATP

X-linked recessive condition caused by deficiency of hypoxanthine-guanine phosphoribosyl-transferase Inability to salvage hypoxanthine or guanine Results in increased levels of PRPP and decreased levels of IMP and GMP, causing increased de novo purine synthesis Results in the excessive production of uric acid, plus characteristic neurological features, including self-mutilation and involuntary movements

Lesch-Nyhan Syndrome

Condition that results in the excessive production of uric acid, plus characteristic neurological features, including self-mutilation and involuntary movements

Lesch-Nyhan Syndrome

Lesch-Nyhan syndrome involves a deficiency of this

Hypoxanthine-guanine phosphoribosyl-transferase

Lesch-Nyhan syndrome results in excessive production of this

Uric acid

Condition characterized by hyperuricemia (from underexcretion of uric acid) with recurrent attacks of acute arthritic joint inflammation, caused by deposition of mono-sodium urate crystals

GOUT

Condition that develops after too much exposure to the sun

Actinic keratoses

5-fluorouracil drug therapy can treat this

Actinic keratoses

Condition caused by a defect in UMP synthase gene

hereditary orotic aciduria

Hereditary orotic aciduria is caused by a defect in the gene for this enzyme

UMP synthase

Elevated levels of methylmalonyl acid occur in the blood in this enzyme deficiency

Methylmalonyl CoA mutase deficiency

Administration of this is used in treatment of hereditary orotic aciduria to decrease anemia and orotic acid build up

Uridine

Uridine gets converted to this, which inhibits CPS II and treats hereditary orotic aciduria

UTP