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FOM Deficiencies Flashcards

1
Q

Prion Diseases

A 
Prpc Protein (containing alpha-helices) is altered to form Prpsc (containing beta-sheets)
increase in beta sheets leads to self-association, and forms amyloid fibers
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2
Q

Sickle Cell Anemia

A

HbSS
Glutamate at position 6 is switched for a valine and creates a sticky patch when in the T state
In low oxygenation, the T state is increased by 2,3-bisphosphoglycerate to promote O2 delivery. This increase in the T state causes polymerization of hemoglobin.
Not seen until 4 months of age when gamma hemoglobin (HbF) is switched to beta hemoglobin

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3
Q

Niacin (Vitamin B3) Deficiency

A

Pellagra

Dermatitis, Dementia, Diarrhea, Glossitis

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4
Q

Riboflavin (vitamin B2) Deficiency Symptoms

A

Cheilosis (sores @ mouth corner), glossitis, keratits (cornea inflammation), dermatitis, anemia

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5
Q

Riboflavin Deficiency Causes

A

malnutrition, malabsorption
phototherapy for hyperbilirubinemia
inherited succinate dehydrogenase deficiency

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6
Q

Riboflavin diagnosis

A

Symptoms

erythrocyte glutathione reductase assay (see if enzyme activity can be increased by exogenous FAD)

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7
Q

Ascorbic Acid (vitamin C) Deficiency symptoms

A

Scurvy

slow wound healing, apathy, anemia, gingival lesions, increase ribcage junctions, petechiae

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8
Q

Scurvy Diagnosis

A

clinical presentation
urinary clearance after ascorbate bolus
dense cap on long bones

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9
Q

Thiamin Deficiency (Vitamin B1)

A
  1. BeriBeri: headache, malaise, peripheral neuropathy, heart failure (wet=cardiac, dry=neuropathy)
  2. Wernicke Encephalopathy: confusion, nystagmus, ataxia
  3. Karsokoff Psychosis: amnesia
  4. Megaloblastic anemia: can’t uptake thiamin leading to deafness and non-type1diabetes
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10
Q

Biotin Deficiency

A

scaly dermatitis, thing hair, alopecia

avidin (raw egg whites) makes biotin indigestible

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11
Q

PLP Deficiency Symptoms (vitamin B6)

A

Infants: seizures, diarrhea, anemia, EEG abnormality (DASE)
Adults: peripheral neuropathy

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12
Q

PLP overdose

A

ataxia, sensory neuropathy

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13
Q

Antiquitin Deficiency and Treatment

A

seizures

Treat with pyridoxal or pyridoxine (PLP precursors)

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14
Q

Pyridoxin oxidase deficiency treatment

A

pyridoxal

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15
Q

PLP Deficiency Diagnosis

A

symptoms, assay, PLP in blood, resolution of symptoms with a supplement

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16
Q

Cobalamin Deficiency (vitamin b12) Symptoms

A

pernicious anemia, weakness, fatigue, FTT sensory defects, seizures, functional folate deficiency, glossitis

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17
Q

Cobalamin Deficiency Diagnosis

A

symptoms, blood smear, methylmalonic acid in blood/urine, cobalamin concentration in serum, schilling test (old school)

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18
Q

CPTI Deficiency

A

See high fatty acyl CoA rather than fatty acylcarnitine

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19
Q

CPTII Deficiency

A

see high fatty acyl CoA and fatty acylcarnitine
adult onset: muscle pain, weakness, myoglobinuria
neonatal/infant onset: irritable, FTT and fatal with severe glycemic episodes

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20
Q

CPTI&II Deficiency problems

A

hypoketotic hypoglycemia

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21
Q

Acyl CoA Dehydrogenase Deficiency (MCAD) symptoms

A

See increased levels of medium chain FA’s in the blood
hypoketotic hypglycemia
infants: Reyes syndrome, hepatic encephalopathy, SIDS

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22
Q

MCAD diagnosis

A

lipid profile in the blood, ID of mutations

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23
Q

MCAD prognosis

A

gets better with age, not bad if ID’d before episode

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24
Q

Jamaican Vomiting Sickness

A

occurs after eating unrip ackee fruit
hypoglycin in fruit inhibits acyl CoA dehydrogenase
MCAD symptoms but not fatal

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25
Ketoacidosis
overproduction of ketones in response to starvation fruity smell of the breath decrease in blood pH
26
Xeroderma Pigmentosum
nucleotide excision repair problem
27
MSH2
cancer | mismatch repair problem
28
BRCA 1 & 2
breast cancer | homologous recombination problem
29
MPCI Mutations
Lactic acidosis | hyperpyruvatemia
30
Pyruvate Dehydrogenase E1 Deficiency
lactic acidemia
31
Myoadenylate Deaminase Deficiency
inherited mutation in AMP deaminase exercise intolerance causes cell death by interfering with electrical signals muscle pain & weakness when exercising No increase in NH4+ after exercise no AMPD1 in muscle biopsy see in early adolescence through late adulthood
32
Insulinoma
Insulin producing tumor | fasting hypoglycemia
33
GSD0
glycogen synthase deficiency fasting ketotic hypoglycemia post-prandial hyperglycemia small liver Treat with small meals
34
GSDI Von Gierke Disease
``` G6Phophatase Deficiency (In liver, converts G6P to glucose)(also used in gluconeogenesis to make glucose from G6P) fasting hypoglycemia lactic acidosis hepatomegaly (glycogen accumulation) hyperuricemia hyperlipidemia ``` Treatment: frequent meals with uncooked corn starch
35
GSDIII Cori Disease
``` Debranching 1:6 Enzyme Deficiency (last step) Fasting hypoglycemia ketoacidosis hepatomegaly high AST/ALT IIIa: liver and muscle (more severe) IIIb: liver ``` Treatment: frequent high carb meals
36
GSDIV Andersons Disease
Branching Enzyme Deficiency FTT, hepatomegaly, liver failure Glycogen synthesis stops because the branches get too long Treatment: liver transplant
37
GSDV McArdle Disease
deficiency of MUSCLE glycogen phosphorylase late childhood onset of exercise intolerance and post exercise myoglobinuria increase in creatinine kinase (exaggerated after exercise) increase in NH4+ after exercise Treatment: avoid exercise
38
Negative Nitrogen Balance
Chachexia (wasting due to cancer/aids) Kwashiorkor (protein deficiency -- irritable, erythroderma, scaly rash, diarrhea, low serum albumin) anorexia
39
OTC deficiency
high ornithine | carbamoyl phosphate diverts to pyrimidine synthesis resulting in high levels of urinary orotic acid
40
Urea Disorders (general)
hyperammonaemia hyperglutaminaemia refusal to eat, seizures, irritable, lethargy, ataxia, tremors, FTT
41
HHH syndrome
hyperammonaemia, hyperornithaemia, homocitrullinaemia ornithin/citrulline deficiency in antiporter lysine + built up carbamoyl phosphate = homocitrulline
42
Urea Disorder Treatments
1. low protein diet 2. N-carbamoylglutamic acid allosterically activates CPSI --> used for NAG synthetase deficiency 3. Eliminate Nitrogen in alternative pathways a. arginine (arginosuccinate lyase def) b. benzoic acid (aa's excretable in urine) c. phenylbutarate (alternative to ornithine) 4. liver transplant 5. viral induced gene therapy
43
Cystinuria
inherited mutation in the aa carrier for cysteine and basic aa's cysteine builds up in the nephron lumen cysteine transporter uptakes too much -- precipitates and forms kidney stones
44
Maple Syrup Urine Disease
branch chain alpha-keto acid dehydrogenase deficiency infants 1 week old - convulsions, vomiting, maple syrup odor in urine increased plasma and urine val, iso, leu, and keto acids hypoglycemic and hypoketotic Mild form = mental retardation Treatment acute: hydration (dilute ketos and pump out) long term: synthetic, low BCAA diet
45
Maple Syrup Urine Disease Prognosis
Classic: fatal if untreated | Intermittent and mild: treat with thiamine (E1 subunit problem)
46
Familial Autism
Branch chain keto acid dehydrogenase kinase mutation causing hyperactivity of BCAA alpha keto acid dehydrogenase & rapid metabolism of BCAA's symptoms: autism and seizures
47
Phenylketonuria (PKU)
defect in phenylalanine hydroxylase no tyrosine synthesis increased phenylalanine in blood and brain symptoms: seizures, cognitive delay, light complexion, mousy odor diagnosis: all infants are pre-screened Treatment: phe restricted diet and tyrosine supplement **defects in BH4 mimic PKU
48
Tyrosinemia (Type II)
Mutation of tyrosine aminotransferase symptoms: plaques on hands and feet, corneal ulcers, mental retardation Labs: serum tyrosine elevation treatment: synthetic diet low in phe and tyr
49
Alcaptonuria
deficiency in homogentisate oxidase increased homogentisate symptoms: occur in middle age, dark urine, arthritis, back pain, renal caliculi diagnosis: ochronosis (dark sclera and ear cartilage), homogentisic acid in urine
50
Tyrosinemia (Type I)
Defect in fumarylacetoacetate hydrolase (FAH) accumulation of succinylacetone symptoms: acute hepatic crisis (2-4mo), jaundice, hepatomegaly, elevated AST&ALT, hypoglycemia diagnosis: succinylacetone in blood and urine treatment: nitosinone
51
Streptococcus Viridans
persistent fever, headache, tiredness, heart murmur Labs: alpha-hemolysis, gram positive, cocci in chains Infectious endocarditis
52
PRPP Superactivity
Increased purine production & Uric acid Mild: uric acid crystalluria, urinary stones, gout arthritis Severe: neurodevelopmental disorders
53
ADA deficiency
Deficiency in Adenosine Deaminase accumulation of 2-deoxyadenosine in the blood Symptoms: lymphocytes
54
PNP deficiency
Purine Nucleotide Phosophorylase deficiency Accumulation of 2-deoxyadenosine (not as severe as ADA) Symptoms: low but not absent T-cells, chronic infections, FTT, neurologic symptoms
55
Lesch-Nyhan Syndrome
Deficiency in hypoxanthine-guanine phosphoribosyl transferase (HGPRT) Symptoms: self injury, increase in uric acid in urine (from inosine and guanine degradation), mental retardation, dystonia (abnormal muscle tone), recurrent vomiting, death from renal failure in mid-30's Treatment: allopurinol (to reduce Uric acid) no effect on neurosymptoms
56
Gout
Purine degradation leading to hyperuricemia precipitation of uric acid in distal joints Treatment: xanithine oxidase competitive inhibitor (decrease uric acid production)
57
Hereditary Orotic Acidemia
FTT, megaloblastic anemia, increased orotic acid nucleotide starvation mutation in enzyme that catalyzes UMP synthesis from orotic acid
58
Hereditary Folate Deficiency
Megaloblastic anemia, FTT, diarrhea, decreased WBC's, neuro symptoms, low 5-methyl THF serum, low folate
59
FIGLU forminotransferase deficiency
megaloblastic anemia mental retardation increased FIGLU in blood and urine
60
Dietary Folate Deficiency
megaloblastic anemia, decreased WBC's, diarrhea, FTT NO neuro symptoms low serum folate normal 5-methyl THF serum levels
61
Hyperhomocystinemia Causes
B12 Deficiency Methionine Deficiency Vitamine B6 Deficiency
62
Familial Hypercholesterolemia
Hyperlipidemia, premature CVD, xanthomas some symptoms in heterozygotes mutations in LDL receptor including ligand binding domain and Apo B mutations
63
Congenital Adrenal Hyperplasia
CYP21 deficiency: decreased aldosterone & cortisol, increased testosterone and androgens, can't maintain salt/water balance, see secondary male sex characteristics in women CYP17 deficiency: no sex hormones created, only aldosterone created, sexual infantilism and high FSH/LH in women
64
Pantothenoic Acid (B5)
NO deficiency | precursor for CoASH
65
Cataracts
In unregulated diabetes, the pathway to creating fructose from glucose in the eye backs up. The are high amounts of sorbitol (intmd) and fructose. This causes and influx of water and eye damage due to pressure. Additionally, the high sugar content causes non enzymatic glycosylation, protein aggregates, and an opaque disc on the lens.
66
Essential Fructosuria
Fructokinase Deficiency See increased reducing sugars in urine no other symptoms because Fructose can be put into glycolysis in muscle
67
Hereditary fructose intolerance (Aldolase B deficiency)
Fructose-1-phosphate is trapped in the cell and depletes the phosphate pool inhibits glycogenolysis inhibits ATP synthesis Symptoms: vomiting, lethargy, episodic hypoglycemia, FTT, hepatic failure Treatment: eliminate fructose from the diet
68
Lactase Deficiency
1. Primary- lactase function decreases with age starting in adolescence 2. Secondary - lactase function is decreased due to damage of the brush border enterocyte epithelia via intestinal disease 3. congenital- rare; no lactase Symptoms: methane and hydrogen gas production as lactose is fermented to lactic acid in the gut (flatulence), influx of H20 into the lumen due to lactic acid buildup
69
Galactosemia causes
galactokinase deficiency, Galactose-1-phosphate deficiency, epimerase deficiency
70
Galactokinase Deficiency
Build up of galactose Symptoms: cataracts Treatment: eliminate lactose from the diet
71
Galactose-1-phosphate Uridyl Transferase Deficiency
Phosphate pool is depleted by metabolically inert Galactose-1-phosphate symptoms: episodic hypoglycemia, early onset, jaundice hepatomegaly, lethargy, FTT Treatment: eliminate galactose from the diet
72
Epimerase Deficiency
Phosphate pool is depleted by metabolically inert Galactose-1-phosphate symptoms: episodic hypoglycemia, early onset, jaundice hepatomegaly, lethargy, FTT Treatment: restrict galactose from the diet (still need some galactose because UDP-galactose is important for glycosylation reactions)
73
Hypergonadotropic Hypogonadism
No secondary sex characteristics in women | LH is not glycosylated due to a galactose-1-phosphate uridyl transferase deficiency
74
G6P Dehydrogenase Deficiency
X-linked under metabolic/oxidative stress (usually caused by xenobiotics/fava beans), not enough NADPH is made for the reduction of glutathione leading to H2O2 buildup in the cell Symptoms: hemolytic anemia
75
Fructose-1,6-Bisphosphatase Deficiency
Episodic Hypoglycemia (when glycogen is depleted)
76
PEP-CK deficiency
fatty liver, early death | limited research on this
77
GLUT 1 deficiency
Glut one is the only way to cross the BBB so neurons become starved Symptoms: seizure and movement disorder
78
Elevated Anion Gap
Metabolic Acidosis (lactic and ketoacidosis)

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