Final Mix Flashcards

1
Q

Lead poisoning

A

Inhibits Ferochelase and ALA dehydratase

^ ALA/ Protopophyrin

*Macrocytic anemia, Kidney dz

BASOPHILIC STIPPLING

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2
Q

Langerhans histocytosis

A

Birbeck granules (tennis racket)

Lytic bone lesion + rash and otitis media

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3
Q

Glanzman Thromboblasthenia

A

Decreased GpIIb/IIIa- aggregation defect

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3
Q

Hodgkins Lymphoma

A

Reed Steinberg cells

Continuous spread EBV associated

-Generally good prognosis

Prognosis better when Lymphocytes>Reed steinberg

Usually in younger or older

Fever, weight loss, night sweats,

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3
Q

Essential Fructosuria

A

Fructokinase D (AR)

Benign

fructose in urine

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3
Q

McArdle DZ

A

MYOPHOSPHORYLASE (skeletal M glycogen phosphorylase) D AR

*^ Muscle glycogen, painful muscle cramps and osmotic lysis of muscle cells with exercise.

*rare arrhythmias

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3
Q

Pompe DZ

A

Lysosmal alpha 1-4 Glucosidease D (AR)

*endsosomal glycogen deposits

*CARDIOMYOPATHY –>Death (heart)

*SYSTEMIC DISEASE –>Death (liver muscle)

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3
Q

Folate B9

A

Deficiency: Phenytoin, sulfonamides, MTX

*Increased cysteine with normal methylmmmalonyc acid

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3
Q

Glycolysis

A

PFK1

^AMP, F2-6P

v ATP, Citrate

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3
Q

De Novo Purine Synthesis

A

PRPP amidotransferase

v AMP, IMP, GMP

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3
Q

Minimal Change Dz

A

Nephrotic

LM-Normal

EM- Foot process effacement

*Kids

*infection, immunization etc.

*Hodgkins

TX: CORTICOSTEROIDS

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4
Q

Acute Intermittent Pophyria

A

Porphobilinogen Deaminase D causes ^ PORPHOBILINOGEN ,ALA, Coporhobilinogen

*Early Heme synthesis

*Painful abdomen, PORT WINE URINE- darkens on standing, Polyneuropathy, psychological

*PRECIPITATED BY DRUGS, ETOH, STARVATION TX: Glucose and HEME –IALA synthase

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4
Q

Irreversible enzymes of Gluconeogenesis

A

Pyruvate carboxylase

PEP carboxyKinase

F1-6Pase

G6Pase

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5
Q

Tay-Sachs disease

A

Hexosaminidase A D (AR) Buildup of GM2 GANGLIOSIDE

*Cherry red spot on macula,

ONION SKINNING of lysosomes

*Progressive neurodegeneration

DEATH BY AGE 4

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5
Q

Urea Cycle

A

Carbamoyl phosphate synthetase I

^ N-Acetyl glutamate

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5
Q

Diffuse Proliferative GN

A

SLE/MPGN “Wire looping” of capillaries

SubENDOthelial and intramembranous IgG with C3 deposition

NEPHROTIC OR NEPHRITIC

MOST COMMON CAUSE OF DEATH IN SLE

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6
Q

HUS

A

Hemolysis, uremia, thrombocytoopenia

Post EHEc common

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7
Q

Lysosomal Storage Diseases

A

I Cell DZ

Fabry

Gauchier

Niemann-Pick

Tay Sachs

Krabbe

Metachromatic leukodistrophy

Hurler syndrome

Hunter Syndrome

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7
Q

Von Gierke DZ

A

G6Pase D (AR)

*Severe fasting hypoglycemia

*^ Glycogen in liver/ HEPATOMEGALY

*^ Blood lactate

TX: Oral cornstarch and frequent feeding.

Avoid galactose and fructose

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7
Q

Membranous Nephropathy

A

Nephrotic LM- diffuse capillary and GBM thickening

IF- granular immune deposition

EM- Spike and Dome w/SUBEPITHELIAL deposits

*Most common 1ary caucasian nephrosis

*Anti-phospholipid A2 receptor

*HBV, HCV, SLE, TUMOR

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8
Q

RPCGN

A

Goodpasture Wegener’s GPA

Microscopic polyangiitis

Crescent moon shaped fibrin, protein, and leukocyte infiltration

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9
Q

Classic Galactosemia

A

Galac1P Uridyltransferase D (AR) causes ^GALACTITOL

*Infantile Cataracts

*Failure to thrive

*jaundice

*hepatomegaly

*intellectual Disability

TX: Exclude galactose and Lactose from diet

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9
Q

Kawasaki disease

A

Fever 4 days + CRASH - Conjunctivitis, Rash, Adenopathy, Strawbery tongue, Hands and feet.

*Necrotising vasculitis of medium arteries including coronaries (risk for aneurysm/thrombosis/rupture)

TX: IVIG and ASPIRIN

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10
Q

IL12R Deficiency

A

Decreased Th1- TB all the time (and fungal)

v IFN gamma (treat with supplemental)

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10
Acute post strep GN
Hypercellular glomeruli with "lumpy bumpy" immune complexes along BM and mesangium SubEPITHELIAL humps on EM cola colored urine, HTN, decreased complement levels
11
N-Acetylglutamate deficiency
Needed for CPS 1 --\> hyperammonemia ^ornathine without orotic aciduria Normal urea cycle enzymes/ No enzyme deficiency
11
Maple Syrup Urine Disease
Alpha Keto-acid Dehydrogenase D (AR) B1 FAD NAD dependent I Love Vermont- Isoleucine, Leucine, Valine \*CNS Defects \*Intellectual diability \*death TX: Restrict ILV, Thiamine supplement
11
Nephrotic syndrome
\>3.5g Proteinuria Hyperlipidemia Fatty casts Thromboembolism (ATIII loss) ^ Risk of infection FSGS, Membranous Nephropathy, Minimal change Dz, Amyloidosis, Membranoprolferative GN, Diabetic Glomerulonephropathy
12
Weber syndrome
Paramedian stroke \*Ipsilateral Oculomotor nerve palsy \*Contralateral Hemiparesis \*Contralateral Hypoglossal palsy \*Contralateral parkinsonism
14
B6 Pyridoxine
Pyridoxal Phosphate Vital to ALT and AST function Transamination, decarbox, glycogenolysis, many neurotransmitters etc Defieciency- \*GABA deficiency- Convulsions, hyperirritability, peripheral neuropathy \*Can be caused by INH and OCP \*Sideroblastic anemia
15
Follicular lymphoma
t14:18 IgG BCL2 vApotosis Adults Indolent with "WAXING AND WANING LYMPHEDENOPATHY
16
Hartnup Dz
Cant uptake neutral AA Tryptophan/ Niacin Deficiency \*Pellagra: Dermatitis, diarrhea, dimentia TX: Niacin supplements
17
Focal Segmental Glomerulosclerosis
Nephrotic LM- Segmental sclerosis and hyalinosis LM EM- Foot process effacement- Like minimal change AA/Hispanic HIV, SS Dz, Heroin abuse, Obesity, IFN treat, CKD- congenital or removal
19
Niacin- B3
NAD factor- can be derived from tryptophan Deficiency- Pellagra \*Dermatitis \*Dementia \*Diarrhea Excess- Facial flushing Hyperglycemia Hyperuricemia
19
Alport syndrome
IV collagen problem BM thinning Glomerulonephritis, deafness, eye problems "Cant pee, cant see, cant hear high C"
20
Temporal Giant Cell Arteritis
Most common in elderly females Unilateral headache Focal granulomatous inflammation of carotid artery branches can cause blindness due to ophthalmic occlusion. TX: CORTICOSTEROIDS Associated with Polymyalgia rheumatica
21
Alport syndrome
IV collagen problem BM thinning Glomerulonephritis, deafness, eye problems "Cant pee, cant see, cant hear high C"
22
Mantle cell lymphoma
Older males - 11:14 translocation - IgG and Cyclin D
23
Gaucher DZ
MOST COMMON GLUCOCEREBROCIDASE D (XR) leads to ^ GLUCOCEREBROSIDE \*hepatosplenomegaly \*pancytopenia \*Aseptic necrosis of femur \*bone crises \*Gaucher Cells- LIPID LADEN MACs RESEMBLING CRUMPLED TISSUE PAPER TX:rGLUCOCEREBRSIDASE
23
Acyl- CoA Dehydrogenase D
\*decreased FA B- Oxidation \*v Gluconeogeneis (Acetyl CoA is activator) \* Decreased fasting glucose
24
I-Cell DZ
Problem attaching M6P to lysosomal proteins in golgi (phosphotransferase D) Proteins secreted instead (in secretory granules) \*Coarse facial features \*Clouded corneas \*Restricted joint mvt. \*high plasma lysosomal proteins OFTEN FATAL IN CHILDHOOD
25
Adenosine Deaminase deficiency
(AR) Purine salvage deficiency causing hyper ATP and dATP Negative feedback on purine synthesis Results in a severe combined immunodeficiency -Failure to thrive -Chronic diarrhea -Recurrent infections of all types (Signs: No thymic shadow, v TRECs, no T cells
26
IgA nephropathy
Mesangial proliferation with Mesangial Immune Complexes Henoch- schonnlein purpura URI/ gastroenteritis preceeding Hematuria, RBC casts, arthritis, rash
28
Gluconeogenesis
F1-6Pase ^ATP , Acetyl CoA v AMP, F2-6P
29
Cori DZ
Debranching Enzyme D (AR) \*Branched Glycogen in liver \*Mild hepatomegaly and low fasting glucose
30
Mycoses fungoides- Sezary
Cerebreform nuclei CD4+ cutaneous patches and lymph tumors Indolent course
32
Alkaptonuria
HOMOGENSAtE OXIDASE D (AR) \*Cant degrade tyrosine \*Benign darkening of connective tissue \*Dark urine on standing DEBILITATING Arthritis
33
Wallenberg syndrome
Lateral medullary syndrome PICA Vestibular nuclei, lat. spinothalamic, spinal trigem nuc. nuc ambiguous Sympathetics, inferior cerebellar peduncle \*Vertigo/nystag/vomiting \* v Pain and temp IPSILATERAL face, CONTRALATERAL body \*Dysphagia, hoarseness, v gag \*Ipsilateral Horner \*ataxia, dysmetria
33
TCA Cycle
Isocitrate Dehydrogenase ^ADP v ATP, NADH
34
Niemann-Pick disease
Sphyngomyelinase deficiency (AR) leads to accumulation of SPHINGOMYELIN \*Seen in CNS and cerebellum \*HEPATOSPLENOMEGALY \*Progressive neurodegeneration \*cherry red spot on fundoscopic examiniation \*"Foam cells"
35
TTP
ADAMS13 D \*Increased thrombosis- vWF multimers \*Schistocytes, ^LDH NASTY FEVER TORCHED HIS KIDNEYS Neuro, Fever, Thrombocytopenia, Hemolysis, Kidney failure
37
Autosomal Recessive disorders
ABCDEFGH SPW Albinism/Alpha1AT, Beta thal, CF/CAH, Dubin johnson/deafness, Enzyme Ds(lysosome/glycogen storage), Friedrichs Ataxia/Fanconi, Galactosemia, Hemochromatosis Sickle cell, PKU, Wilsons
38
Vitamin A
Antioxidant -differentiation of epithelial cells -Adjunct to measels treatment, PML treatment, Acne (isotretinoin) Deficiency- Night blindness, dry skin/alopecia, immune D Excess- Pseudotumor cerebri, alopecia and skin changes, Hepatic abnormatities, Cleft palate/Cardiac defects
39
FA Oxidation
Carnitine Acyltransferase I / Carnatine Palmitoyl Transferase I v Malonyl CoA
41
Atypical antipsychotics
Olanzapine, clozapine, quetiapine, risperidone, aripiprazol, ziprasodone
41
Cystinuria
COLA transporter D (AR) \*Hexagonal renal cysteine stones \*2 Cysteine covalently bonded TX: Alkalinize urine (acetazolamide), and Chelating agents
43
Henoch-Schonlein Purpura
Most common childhood vasculitis following URI IgA Complex deposition \*Palpable purpura lower extremities \*Arthralgia \*Abdominal pain, melena Can cause IgA nephropathy
45
FA synthesis
Acetyl CoA carboxylase ^ Insulin, Citrate, v Glucagon, Palmitoyl CoA
47
AD hyper IgE (Job)
Stat mutation- No neutrophil recruitment FATED- course Faces, Abscesses(cold), Teeth(primary retained), IgE, Derm- eczema ^ IgE, v IFN gamma
48
Riboflavin
FAD- Component of dehydrogenase reactions (TCA cycle) Deficiency- Chelosis, Corneal vasculization, dementia, glossitis
50
Acute post strep GN
Hypercellular glomeruli with "lumpy bumpy" immune complexes along BM and mesangium SubEPITHELIAL humps on EM cola colored urine, HTN, decreased complement levels
51
Homocysteinuria
CYSTATHIONE SYNTHASE D (cant make cysteine) or HOMOCYSTEINE METHYLTRANSFERASE D (cant make methionine) \*^ Homocysteine in urine \*intellectual disability \*tall with Kyphosis and osteoporosis \*Down and in lens subluxation \*Atherosclerosis/ Thromboembolism/ Stroke (EVEN IN KIDS) TX: Increase cysteine or methionine, B12/B6 supplementation
52
ITP
usually post infectious in kids \*Anti GpIIb/IIIa ab \*Thrombolysis, ^ Megakaryocytes on BM smear
53
Marginal maltoma
Associated with sjogrens , hashimoto thyroiditis, and H pylori
53
Krabbe Leukodystrophy
Galactocerebrosidase D (AR) leads to ^ GALACTOCEREBROSIDE psychosine \*peripheral neuropathy \*Developmental delay \*optic atrophy \*globoid cells FATAL BEFORE AGE 2
54
PAN
Polyartaritis nodosa \* "rosary sign" micro-aneurysms and spasms \* Immune complex involvement of medium sized renal and visceral vessels \*Transmural inflammation with fibrinoid necrosis \*Associated with Hep B Fever, weightloss, malaise, headache, abdominal pain, melena, HTN, neurologic dysfunction TX: CORTICOSTEROIDS, CYCLOPHOSPHAMIDE
55
Thromboangiitis Obliterans
(Buerger DZ) Heavy smokers, male \>40 Segmental thrombosing vasculitis \*Claudication causing gangrene, autoamputation, superficial nodular phlebitis and raynauds. TX: SMOKING CESSATION
57
Burkitt Lymphoma
8:14 translocation C myc Starry sky appearance EBV associated Jaw lesion in africa
59
Glycogenolysis
Glycogen Phosphorylase ^Epi, glucagon, AMP v G6P, insulin, ATP
60
High potency antipsychotics
Try to Fly High Trifluoperazine, fluphenazine, Haloperidol PARKINSONISM
61
Fragile X
v FMRI Xlinked \*intellectual disability \* Big balls \*Large Jaw \*Large everted ears \*autism \*Mitral prolapse
63
ALL
Tcell variety= mediastinal mass Bone pain Spreads to CNS and testes Good response to chemo t(12:21) confers better prognosis DOWNS association
64
Glycogen Synthesis
Glycogen Synthase ^G6P, Insulin, Cortisol v Epi, Glucagon
65
Porphyria Cutanea Tarda
UROPOPHRYHOGEN DECARBOXYLASE D - ^ Uroporphyrin \*BLISTERING PHOTOSENSITIVITY \*Liver involvement \*Tea colored urine \*hypertrichosis \*facial pigmentation \*HepC, Alcoholism, LFTs
66
Ataxia Telangectasia
DS DNA breaks Cerebellar defects, telangectasia IgA deficiency ^ AFP, v IgA,G,E
68
Bernard Soulier
decreased GpIb --\> Decreased ADHESION to vWf
69
Takayasu Arteritis
"pulseless disease" Granulomatous involvement of aortic arch and great vessels Young asian females Fever, night sweats, arthritis, myalgias, skin nodules, ocular disturbances TX:CORTICOSTEROIDS
71
Galactokinase D
AR Galctose in blood and urine (maybe galactitol) \*Infantile cateracts lack of tacking/ social smile
72
Diabetic Glomerulonephropathy
Mesangial expansion with GBM thickening. Eosinophilic nodular glomerulosclerosis "Kimmelstein wilson lesions" Glycosylation of GBM --\> Permeability Glycosylation of efferent arterioles---\> mesangial expansion
73
Metachroomatic Leukodystrophy
ARYLSULFITASE A D (AR) leads to ^ CEREBROSIDE sulfate \*Central and peripheral demyelination \*Ataxia \*Dementia METACHROMATIC staining
73
Biotin B7
Carboxylation enzymes: Pyruvate--\>OAA Acetyl CoA-\>Malonyl CoA Pripionyl CoA --\> Methylmalonyl CoA Deficiency: Caused by a ton of raw egg whites or antibiotics \*Dermatitis, alopecia, enteritis
74
Leukocyte adhesion deficiency
LFA1 defect Bacterial infections, impaired healing, delayed umbilical separation Neutrophilia from decreased margination
75
Membranoproliferative glomerulonephritis
Type I - SubENDOthelial immune complex deposits with granular IF- TRAM TRACK appearance HBV, HCV, Lupis, Subacute bacterial endocarditis Type II -Intramembranous DENSE DEPOSITS. LOW C3
76
Brouton agammaglobinemia
X-Linked BTK (Bcell Tyrosine Kinase) deficiency No adult BCL count no pro B cells and low Ig(AMGDE) Bacterial and viral infections
78
Common variable deficiency
v B cell differentiation BRONCHIECTASIS in normal 20-30 yo female (sinopulm infections) v Plasma cells and IG
80
AML
(PML with 15:17) \>20% blasts in periphery or \>20% in BM Aurer rods/ faggot cells Treat with retinoic acid Can come from myeloproliferative disorders \>60 YO DIC common presentation
82
Hereditary hemorrhaghic telangectasia
Telangectasia, epistaxis, AV malformations, GI bleed hematuria Osler-Weber-Randau
83
Chronic granulomatous dz
X linked NADPH oxidase D ^ catalase + organisms PLACESS Pseudomonas, listeria, Aspergilis, Candida, Ecoli, Staph, Seratia Dihyrorotamine and nitroblue test
84
Cholesterol Synthesis
HMG CoA reductase ^Insulin, T4 v Glucagon, Cholesterol
86
B5 (pantothenate)
CoA part - fatty acid synthesis Deficiency -Dermatitis, enteritis, alopecia, adrenal insufficiency
87
Hurler Syndrome
alpha-L-IRONIDASE D (AR) causes ^ HEPARAN & DERMATAN sulfate \*Gargoylism \*Devo delay \*airway obstruction \*corneal clouding \*hepatosplenomegaly
88
Wiskott-Aldrich
X recessive WATER Wiskott Aldrich Eczema Recurrent infections v IgM,G ^ IgA, E
89
GPA
Wegeners Granulomatosis with Polyangiitis Focal necrotizing vasculitis with granuloma formation \*Perforation of nasal septa, chronic sinusitis, OM, Mastitis \*Hemoptysis, cough, dyspnea \*Hematuria, red cell casts +cANCA (Anti-neutrophil cytoplasmic antibody) TX: CORTICOSTEROIDS, CYCLOPHOSPHAMIDE
90
Thiamine B1
Part of TTP- necessary in many dehydrogenase reactions \*Pyuvate/ alpha ketoacid dehydro/Transketolase/ Branched chain keto Deficiency- \*Confusion/ophthalmoplegia/ataxia \*Confabulation, personality change- Medial thalamus and mamillary bodies \*Dry Beriberi- Polyneuritis/muscle wasting \*Wet beriberi- High output cardiac failure \*\*\* Give thiamine with glucose to hypoglycemic at risk for deficicency\*\*
91
Carnetine D
Unable to transport LCFA into mito for Oxidation \*Weakness/hypotonia \*Hypoketotic hypoglycemia
92
De Novo Pyrimidine synthesis
Carbamoyl phosphate synthetase II
94
Autosomal Dominant Diseases
MMOOCHA STAND Marfan/MEN, OI/Osler-weber-rendu, Cholesterolemia, Huntington/vHL, ADPKD/Achondroplasia, Spherocytosis, Tuberous sclerosis, Adenosis polposis, Neurofibromatosis 1/2, Dystrophies myotonic
96
Hunter Syndrome
IDURONATE SULFATASE D (XR) ^ HEPARIN DERMATAN SULFATE \*Mild Hurler + Aggressive behavior \*No corneal clouding
97
Fabry Dz
ALPHA GALACTOSIDASE A D (XR) Buildup of CERAMIDE TRIHEXOSIDE \*Peripheral neuropathy \*ANgiokeratomas \*CV/Renal DZ with mesenteric ischemia
98
Churg-Strauss
Associated with ASTHMA EOSINOPHILIC granulomatous necrotizing vasculitis +pANCA and ^IgE \*Asthma, sinusitis, palpable purpura, PERIPHERAL NEUROPATHY
99
Diffuse Large B Lymphoma
T 14:18- ^BCL2 = v Apoptosis Most common in adults
100
CML
t9:22 BCR-ABL constituative kinase Increased myeloid cells Splenomagaly 45-85 yrs Imatinib treatment
101
Lesch Nyhan
HGPRT Deficiency (XR) \*Excess uric acid production leading to gout \*intellectual disability \*self mutilation \*aggression \*dystonia TX: Allopurinol and Febuxostat
102
SLL/CLL
Small/chronic lymphocytic leukemia - B cell leukemia \>60 year olds SMUDGE CELLS autoimmune hemolysis
102
HMP Shunt
G6PD ^NADP+ v NADPH
104
Adult T Lymphoma
HTLV1- retrovirus Cutaneous and bone lesions Japan, west Africa, carribean
105
Chedak Higashi
Lysosomal trafficking \*Pyogenic infection \*Partial albinism \*Neuropathy/neurodegen Inclusion in neutrophils and platelets- Pancytopenia common
107
Ketogenesis
HMG CoA Synthetase
109
SCID
Aensine deaminase or IL2 Receptor D \*Failure to thive \*Diarrhea \*Recurrent infections v TRECs, no thymus TX: BMT
110
Hairy cell leukemia
B cell leukemia with pseudopod appearance Older adults TRAP+
111
Fructose intolerance
Aldolase B D (AR) ^ F1P and v Available phosphate \*Hypoglycemia \*Jaundice/Cirrhosis \*Vomiting TX: Eliminate fructose and Sucrose from diet
112
Ornithine Transcarbamylase D
XR Defect in ornathine + carbamoyl phosphate --\> Citruline Carb Phosphate converted to OROTIC ACID \*^OOROTIC ACID \*^ BUN \*Hyperammonemia and hepatic encephalopathy- (Slurring of speech, somnolence, vomiting, cereberal edema,vision problems) TX: decrease protein, give BENZOATE, BIOTIN, PHENYLBUTYRATE
113
G6P D
XR - African americans \*Inability to produce NADPH - cant reduce glutathione Hemolysis with oxidative stress (fava beans, sufa, primaquine/chloro, Anti TB drugs) \*Heinz bodies and Bite cells
114
Pyruvate Dehydrogenase Deficiency
^ Pyruvate \*Lactic acidosis (2/2 LDH) \*Neuro defects \*Increased alanine (2/2 ALT) TX: KETOGENIC FOODS (fats) and AA(Lysine Leucine)
115
PKU
PHENYLALANINE OH-ASE D or BH4 D (AR) ^ Phenylketones in urine- v aromatic acid metabolism \*intellectual disability \*Mousy/musty smell \*Fair skin \*Eczema \*Growth retardation TX: Avoid aspartame, dairy, meat, fish, chicken, beans, nuts- BH4 sup.
116
Low potency Antipsychotics
Cheating Thieves are Low Chlorpromazine, Thoradiazine