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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
Q

Ketoacidosis

A

overproduction of ketones in response to starvation
fruity smell of the breath
decrease in blood pH

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26
Q

Xeroderma Pigmentosum

A

nucleotide excision repair problem

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27
Q

MSH2

A

cancer

mismatch repair problem

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28
Q

BRCA 1 & 2

A

breast cancer

homologous recombination problem

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29
Q

MPCI Mutations

A

Lactic acidosis

hyperpyruvatemia

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30
Q

Pyruvate Dehydrogenase E1 Deficiency

A

lactic acidemia

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31
Q

Myoadenylate Deaminase Deficiency

A

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

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32
Q

Insulinoma

A

Insulin producing tumor

fasting hypoglycemia

33
Q

GSD0

A

glycogen synthase deficiency
fasting ketotic hypoglycemia
post-prandial hyperglycemia
small liver

Treat with small meals

34
Q

GSDI Von Gierke Disease

A 
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
Q

GSDIII Cori Disease

A 
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
Q

GSDIV Andersons Disease

A

Branching Enzyme Deficiency
FTT, hepatomegaly, liver failure
Glycogen synthesis stops because the branches get too long

Treatment: liver transplant

37
Q

GSDV McArdle Disease

A

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
Q

Negative Nitrogen Balance

A

Chachexia (wasting due to cancer/aids)
Kwashiorkor (protein deficiency – irritable, erythroderma, scaly rash, diarrhea, low serum albumin)
anorexia

39
Q

OTC deficiency

A

high ornithine

carbamoyl phosphate diverts to pyrimidine synthesis resulting in high levels of urinary orotic acid

40
Q

Urea Disorders (general)

A

hyperammonaemia
hyperglutaminaemia
refusal to eat, seizures, irritable, lethargy, ataxia, tremors, FTT

41
Q

HHH syndrome

A

hyperammonaemia, hyperornithaemia, homocitrullinaemia

ornithin/citrulline deficiency in antiporter
lysine + built up carbamoyl phosphate = homocitrulline

42
Q

Urea Disorder Treatments

A
  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
Q

Cystinuria

A

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
Q

Maple Syrup Urine Disease

A

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
Q

Maple Syrup Urine Disease Prognosis

A

Classic: fatal if untreated

Intermittent and mild: treat with thiamine (E1 subunit problem)

46
Q

Familial Autism

A

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
Q

Phenylketonuria (PKU)

A

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
Q

Tyrosinemia (Type II)

A

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
Q

Alcaptonuria

A

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
Q

Tyrosinemia (Type I)

A

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
Q

Streptococcus Viridans

A

persistent fever, headache, tiredness, heart murmur
Labs: alpha-hemolysis, gram positive, cocci in chains
Infectious endocarditis

52
Q

PRPP Superactivity

A

Increased purine production & Uric acid
Mild: uric acid crystalluria, urinary stones, gout arthritis
Severe: neurodevelopmental disorders

53
Q

ADA deficiency

A

Deficiency in Adenosine Deaminase
accumulation of 2-deoxyadenosine in the blood
Symptoms: lymphocytes

54
Q

PNP deficiency

A

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
Q

Lesch-Nyhan Syndrome

A

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
Q

Gout

A

Purine degradation leading to hyperuricemia
precipitation of uric acid in distal joints
Treatment: xanithine oxidase competitive inhibitor (decrease uric acid production)

57
Q

Hereditary Orotic Acidemia

A

FTT, megaloblastic anemia, increased orotic acid
nucleotide starvation
mutation in enzyme that catalyzes UMP synthesis from orotic acid

58
Q

Hereditary Folate Deficiency

A

Megaloblastic anemia, FTT, diarrhea, decreased WBC’s, neuro symptoms, low 5-methyl THF serum, low folate

59
Q

FIGLU forminotransferase deficiency

A

megaloblastic anemia
mental retardation
increased FIGLU in blood and urine

60
Q

Dietary Folate Deficiency

A

megaloblastic anemia, decreased WBC’s, diarrhea, FTT
NO neuro symptoms
low serum folate
normal 5-methyl THF serum levels

61
Q

Hyperhomocystinemia Causes

A

B12 Deficiency
Methionine Deficiency
Vitamine B6 Deficiency

62
Q

Familial Hypercholesterolemia

A

Hyperlipidemia, premature CVD, xanthomas
some symptoms in heterozygotes
mutations in LDL receptor including ligand binding domain and Apo B mutations

63
Q

Congenital Adrenal Hyperplasia

A

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
Q

Pantothenoic Acid (B5)

A

NO deficiency

precursor for CoASH

65
Q

Cataracts

A

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
Q

Essential Fructosuria

A

Fructokinase Deficiency
See increased reducing sugars in urine
no other symptoms because Fructose can be put into glycolysis in muscle

67
Q

Hereditary fructose intolerance (Aldolase B deficiency)

A

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
Q

Lactase Deficiency

A
  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
Q

Galactosemia causes

A

galactokinase deficiency, Galactose-1-phosphate deficiency, epimerase deficiency

70
Q

Galactokinase Deficiency

A

Build up of galactose
Symptoms: cataracts
Treatment: eliminate lactose from the diet

71
Q

Galactose-1-phosphate Uridyl Transferase Deficiency

A

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
Q

Epimerase Deficiency

A

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
Q

Hypergonadotropic Hypogonadism

A

No secondary sex characteristics in women

LH is not glycosylated due to a galactose-1-phosphate uridyl transferase deficiency

74
Q

G6P Dehydrogenase Deficiency

A

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
Q

Fructose-1,6-Bisphosphatase Deficiency

A

Episodic Hypoglycemia (when glycogen is depleted)

76
Q

PEP-CK deficiency

A

fatty liver, early death

limited research on this

77
Q

GLUT 1 deficiency

A

Glut one is the only way to cross the BBB so neurons become starved
Symptoms: seizure and movement disorder

78
Q

Elevated Anion Gap

A

Metabolic Acidosis (lactic and ketoacidosis)

FOM (2 decks)

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