Vitamin | Deficiency |
---|---|
A | Night blindness Xeroderma Xerophthalmia Bitot spots |
B1 | Dry beriberi Wet beriberi Wernicke encephalopathy Korsakoff syndrome Wernicke-Korsakoff syndrome |
B2 {2C} | Cheilosis Corneal vascularization |
B3 {3D} | Dermatitis :: pellagra Diarrhea Dementia |
B6 | Homocystinuria Sideroblastic anemia Peripheral neuropathy |
B7 | Dermatitis Alopecia |
B9 | Homocystinuria Megaloblastic anemia Neural tube defect |
B12 | Homocystinuria Megaloblastic anemia Methylmalonic acidemia Subacute combined degeneration |
C | Scurvy ↓ Wound healing Easy bruising |
D | Rickets Osteomalacia Hypocalcemia Hypophosphatemia |
E | Hemolytic anemia |
K | Coagulopathy Easy bruising |
Condition | Calorie (BEE) | Protein (g/kg) |
---|---|---|
Sedentary | 1.2 | 0.8 ~ 1 |
Postoperation | 1.3 ~ 1.5 | 1.2 ~ 1.6 |
Burns | 1.6 ~ 2.0 | 1.5 ~ 2 |
Parameter | 25 × W + 40 × TBSA |
---|---|
W | Weight (kg) |
TBSA | Total body surface area (%) |
Disease | Defects | Hypoglycemia | Hepatomegaly | Myopathy |
---|---|---|---|---|
Von Gierke disease | Glucose-6-phosphatase | + | + | - |
Pompe disease | α-1,4-Glucosidase :: lysosomal | - | + | + |
Cori disease | Debranching enzyme | + | + | + |
Anderson disease | Branching enzyme | - | + | - |
McArdle disease | Glycogen phosphorylase :: musclular | - | - | + |
Hers disease | Glycogen phosphorylase :: hepatic | + | + | - |
Disease | Defects | Findings | Hepatomegaly |
---|---|---|---|
Pompe disease | α-1,4-Glucosidase | - | + |
Disease | Defects | Findings | Hepatomegaly |
---|---|---|---|
Gaucher disease | Glucocerebrosidase | Gaucher cell | + |
Niemann-Pick disease | Sphingomyelinase | Cherry-red spot | + |
Tay-Sachs disease | Hexosaminidase | Cherry-red spot | - |
Fabry disease | α-Galactosidase | Peripheral neuropathy | - |
Krabbe disease | Galactocerebrosidase | Leukodystrophy | - |
Metachromatic leukodystrophy | Arylsulfatase | Leukodystrophy | - |
Disease | Defects | Findings | Hepatomegaly |
---|---|---|---|
I-cell disease | Phosphotransferase | Corneal clouding | + |
Disease | Defects | Findings | Hepatomegaly |
---|---|---|---|
Hurler syndrome | α-Iduronidase | Corneal clouding | + |
Hunter syndrome | Iduronate sulfatase | - | - |
Disorder | Defects | Effects |
---|---|---|
Alkaptonuria (AKU) | Homogentisate oxidase | ↑ Homogentisic acid |
Cystinuria | Amino acid transporter | ↓ COLA |
Hartnup disease | Amino acid transporter | ↓ Tryptophan |
Homocystinuria | Cystathionine synthase | ↑ Homocysteine ↓ Cysteine |
Methionine synthase | ↑ Homocysteine ↓ Methionine | |
Lesch-Nyhan syndrome | HGPRT | ↑ Uric acid |
Maple syrup urine disease (MSUD) | Branched-chain α-ketoacid dehydrogenase | ↑ α-ketoacids |
Methylmalonic acidemia | Methylmalonyl-CoA mutase | ↑ Methylmalonic acid |
Ornithine transcarbamylase deficiency | Ornithine transcarbamylase | ↑ Orotic acid ↑ Ammonia ↓ Urea |
Orotic aciduria | UMP synthase | ↑ Orotic acid ↓ DNA |
Phenylketonuria (PKU) | Phenylalanine hydroxylase Tetrahydrobiopterin | ↑ Phenylalanine ↓ Tyrosine |
Mechanism | Medication | LDL | HDL | Triglyceride |
---|---|---|---|---|
Pancreatic lipase inhibitors | Orlistat | ↓↓ | - | - |
Cholesterol absorption inhibitors | Ezetimibe | ↓↓ | - | - |
Bile acid resin | Cholestyramine Colestipol Colesevelam | ↓↓ | - | - |
HMG-CoA reductase inhibitors | Statins | ↓↓↓ | ↑ | ↓ |
HSL & VLDL synthesis inhibitors | Niacin (B3) | ↓↓ | ↑↑ | ↓ |
LPL & PPAR-α inducers | Fibrates | ↓ | ↑ | ↓↓↓ |
Component | Diseases |
---|---|
Type 1 collagen | Osteogenesis imperfecta |
Type 2 collagen | - |
Type 3 collagen | Vascular Ehlers-Danlos syndrome (EDS) |
Type 4 collagen | Alport syndrome Goodpasture syndrome |
Type 5 collagen | Classical Ehlers-Danlos syndrome (EDS) |
Elastin | α1-antitrypsin deficiency |
Fibrillin | Marfan syndrome |
Disease | Amyloid | Precursor |
---|---|---|
Primary amyloidosis | Amyloid light-chain (AL) | Immunoglobulin light-chain |
Secondary amyloidosis | Amyloid A (AA) | Serum amyloid A (SAA) |
Dialysis-related amyloidosis | Amyloid β2-microglobulin (Aβ2M) | β2-microglobulin (β2M) |
DM type 2 | Amyloid islet amyloid polypeptide (AIAPP) | Islet amyloid polypeptide (IAPP) |
Medullary thyroid cancer | Calcitonin | Calcitonin |
Alzheimer disease | Amyloid β (Aβ) | Amyloid precursor protein (APP) |
Creutzfeldt-Jakob disease | Amyloid prion protein (APrP) | Prion protein (PrP) |
Familial amyloidosis | Amyloid transthyretin (ATTR) | Transthyretin (TTR) |