Biochem - Diseases With Symptoms

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Adenosine Deaminase (ADA)Deficiency

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Severe combined Immunodeficiency syndrome (SCID) by 6 months:mortality ~2year; delayed and late onset:severe infections; partial deficiency; infections

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Albinism(complete-Tyrosinase negative oculocuaneous albinism

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Hypopigmentation; nastigmus;strabismus

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Alkaptonuria

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Ochronosis; large joint arthritis;elevated homogentisic acid in urine (turns black on standing)

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Anderson Disease

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Unbranched glycogenL amylose which can preciptate in heart and liver(cirrhosis)--> death by 5 year

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Beriberi

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Infantile: tachycardia; vomiting; convulsions; death; Adult: dry skin; irritability; disorderly thinking; progressive paralysis

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Carbamoylphosphate synthetase (CPS1) Deficiency

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Hyperammonemia; metal retardation

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Celiac Disease (Celiac sprue)

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Gastrointestinal symptoms of fat malabsorption:diarrhea; malodorous flatulence; abdominal bloating; and(steatorrhea).

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Creutzfeldt-Jakob disease: type of transmissible spongiform encephalopathy

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Progressive death of brain nerve cells due to prions; dementia; ataxia;seizures

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Cystic Fibrosis

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Salty skin; accumulation of mucus in membranes;frequent chest infections and coughing; shortness of breath; pancreatitis

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Cystinuria

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dibasic amino acids appear in urine; kidney stones formed by precipitation of Cys

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Diabetes Mellitus Type 1

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Hyperglycemia; Ketoacidosis; Hypertriglycerolemia;atherosclerosis; vascular disease; neuropathy usually diagnosed in childhood(Juvenile)

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Diabetes Mellitus Type 2

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Hyperosmolar Hyperglycemia state(HHS); can develop into general organ dysfunction; heart; kidney; vascular;neuropathy;associated with obesity

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Duchenne Muscular Dystrophy

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Muscle Degeneration; loss of ambulation; death

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Ehlers-Danlos Syndrome (EDS)(Group of diseases of connective tissue)

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Hyperelasticity of skin; hyperextensibility of joints; abnormal wound healing; easy bruising;fragile blood vessels with tendency for aneurysm

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Emphysema -genetic

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Damage to alveoli: distruction of connecive tissue of alveolar walls normally protected from proteases by alpha1-antitrypsin; Type of COPD; shortness of breath

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Essential Fructosuria

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Fructosuria;benign

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Fabry Disease

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Reddish-purple skin rash;Kidney and Heart Failure; Burning Pain in lower extremities

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Folic Acid deficiency

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Megaloblastic Anemia; Neural tube defects(Spina bifida)

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Fragile X-syndrome

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No FMR1 gene expression needed for brain development; most common inheritable cause of mental retardation: Males severely affected: X-chromo breakage

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Fructose Intolerance (Fructose poisoning)

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Severe Hypoglycemia; vomiting;jaundice;hepatic failure

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Galactokinase Deficiency

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Galactosemia and Galactosuria;increase in galactitol

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Galactosemia

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Galactosemia and Galactosuria;increase in galactitol;vomiting;diarrhea; jaundice;Mental retardation

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Gaucher Disease

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Most common lysosomal storage disease;Hepatosplenomegaly;Osteoporosis of long bones

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Glucose 6-phosphate dehydrogenase(G6PD) deficiency

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Hemolytic Anemia

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Gout

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Acute and chronic gouty arthrities due to monosodium urate crystals deposited in joints; deposition of tophaceous material

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Hartnup Disorder

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pellegra-like dermatologic and neurologic symptoms:cerebral ataxia

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HbC-Hemoglobin C Disease

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Mild; chronic hemolytic anemia

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HbS- Sickle Cell Disease

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Lifelong episodes of pain(crises)due to sickling of RBC --> microinfarcts starting in childhood;chronic hemolytic anemia; increased susceptibility to infections

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HbSC Disease-Hemoglobin SC Disease

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May remain well until suffer from infarctive crisis-can be triggered by childbirth or surgery

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Hemophilia A

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Bleeding; Hematomas; inability to clot

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Hereditary nonpolyposis colonrectal cancer (HNPCC)-Lynch syndrome

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High incidence of colorectal cancer: increased risk of other cancers; e.g. uterine cancer

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Hers Disease

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Hepatomegaly; relatively benign

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Histidemia

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Elevated levels of histidine in blood and urine

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Homocystinuria

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Mental retardation; osteoporosis; Myocardial infarction;lens ectopia; accumulation of homocystein in urine and Methionine and metabolistes in blood

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Hunter Syndrome MPS II

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Variation of severity;No corneal cluding; physical deformity and metaol retardation varies

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Huntington Disease

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Abnormal; involuntary jerking body movements; unsteady gait; psychiatric changes; dementia; appears in middle age

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Hurler Syndrome MPS 1H

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Most severe form of Mucopolysaccaridoses:Corneal Clouding;Mental retardation; dwarfing;coarse facial features

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Hyperlipidemia Type I; Hyperlipoproteinemia Type I

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Accumulation of chylomicrons in plasma (<1000mg/dl); milky serum

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Hyperlipidemia Type IIa;Hyperlipoproteinemia Type IIa;Familiar Hypercholesterolemia (FHC)

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Elevated LDL and plasma cholesterol (500-800mg/dl);premature atherosclerosis;Xanthomas

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Hyperlipidemia Type III;Hyperlipoproteinemia Type III(broad beta disease);Familial Dysbetalipoproteinemia

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Hypercholesterolemia and premature atherosclerosis

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Hyperlipidemia Type IV; Hypertriglyceridemia

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High blood triglycerides; obesity; can be associated with Type II diabetes;increased risk of coronary atherosclerosis

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Hyperlipidemia Type V

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Hypertiglyceridemia and hyperchylomicronemia

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Hypervitaminosis A

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Dry and puritic skin;enlarged liver which can become cirrhotic; rise in intracranial pressure

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I-Cell Disease;Glycoprotein storage disease

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Skeletal abnormalities; restricted joint movement; coarse facila features; severe psychomotor impairment; Death by 8yr

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Kwashiorkor

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Stunted growth; edema(deceptively plump belly); skin lesions; depigmented hair; anorexia;decreased plasma albumin

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Lactose Intolerance

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Ingestion of lactose containing products causes diarrhea; abdominal cramps; flatulence

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Lecithin Acylcholesterol Transferase (LCAT) Deficiency

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Increased tissue cholesterol; Diffuse corneal opacities(Fish-eye disease-partial LCAT deficiency);proteinuria;hepatic failure; hemolytic anemia

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Lesch-Nyhan syndrome

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Motor dysfunction; cognitive deficits;self-mutilation; hyperuricemia; gout; gouty arthritis

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Maple Syrup Urine Disease

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Neurologic problems; high mortality; branched chain a a. and a-keto analogs are elevated in plasma and urine

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Marasmus

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Arrested growth; extreme muscle wasting (emaciation); weakness and anemia ( not edema)

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Marfan Syndrome

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Lens ectopia(displaced lens); elongation of limbs; arachnodactyly;Rupture of an ascending aortic aneurysm is the most common cause of death

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McArdle Syndrome; GSD Type V

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Muscle Cramping;Myglobinuria;Relatively benign; chronic

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Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)

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Children sensitive to hypoglycemia; has been connected to SIDS; can suddenly present will flu like syndromes

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Methemoglobinemia

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Chocolate cyanosis:brownish-blude of membranes; chocolate-colored blood due to metHb; Tissue hypoxia; anxiety; headaches; dyspnenia

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Methylmalonyl CoA mutase Deficiency

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Metabolic acidosis; developmental problems; elevated levels of methyl-malonyl CoA in blood

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Mytonic Dystrophy I

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Type of muscular dystrophy; muscle wasting;myotonia; muscle weakness

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Neonatal Jaundice

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Usually in premature infants;Elevated bilirubin that diffuses into tissue: yellow hue: can lead to kernicterus(toxic encephalapathy); Treated with blue light

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Niemann-Pick Disease

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Hepatosplenomegaly; Neurodegenerative; accumulation of sphingomyelin

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Ornithine transcarbamoylase deficiency

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Hyperammonemia; mental retardation

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Orotic Aciduria

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Megaloblastic anemia; poor growth; large amounts of orotate in urine

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Osteogenesis Imperfecta (OI):Brittle Bone syndrome

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"Bones easily bend or fracture; retarded wound healing; rotated and twisted spine ""humped-back""; Type II fetus dies in utero"

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Parkinson Disease

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Bradykinesia; tremors; rigidity; poor balance; parkinsonian gait

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Pellegra

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3 D's: Dermatitis; Diarrhea; Dementia and if untreated death

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Phenylketonuria

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"Urine has ""musty""odor; Elevated levels of Phe in urine; tissue ; plasma; Mental retardation; failure to walk or talk; microcephaly"

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Pompe Disease; GSD Type II

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Cardiomegaly;Infantile form:deathExcess Glycogen in lysosomal vacuoles

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Porphyria Cutanea Tarda

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Affects hepatic and erythropoietic tissues;Photosensitivity; Most common type of porphyria; Uroporphyrin accumulates in urine: pink to red in fluorescent light

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Porphyria: Erythropoietic Protoporphyria

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Type of erythropoietic porphyria;Photosensitivity; Protoporphrin accumulates in erythrocytes; bone marrow and plasma

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Porphyria:Acute Intermittent (AIP)

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Abdominal pain occurs in 90-95% of the attacks. Some patients develop psychiatric symptoms such as psychosis similar to schizophrenia: can be triggered by phenobarbitol

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Pyruvate Dehydrogenase Deficiency

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Lactic acidosis

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Pyruvate Kinase Deficiency

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Hemolytic Anemia

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Riboflavin deficiency

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Dermatitis; cheilosis(fissuring at the corner of mouth); glossitis(tongue smooth and purple)

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Rickets

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Demineralization of bone; Osteomalacia in adults;Renal: decreased synthesis of kidney of active Vit D3; PTH: Lack of PTH to stimulated acitve Vit D3 synthesis

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Scurvy

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Sore and spongy gums; loose teeth; fragile blood vessels; swollen joints

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Sly Syndrome MPS VII

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Corneal cluding;hepatosplenomegaly; skeletal deformity; short stature; mental deficiency

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Tangier Disease

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Hypocholesterolemia; Enlarged Orange-yellow tonsils(cholesrerol deposits);Hepatomegaly and splenomegaly;decreased HDL

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Tarui Disease

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Normal glycogen in muscle; muscle cramping; myoglobinuria

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Tay-Sachs Disease

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Rapid and progessive neurodegeneration; Cherry-red macula; blindness; msucular weakness; death by 2yr;accumulation of GM2

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Thallassemia-beta (a-Thallassemia)

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Trait:2 defective alpha-gene;3 defective genes:HbBart g4 or HbH b4:chronic hemolytic anemia of variable severity; 4 defective genes:hydrops fetalis-fetal death

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Thallassemia-beta (b-Thallassemia)

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Trait:1 defective beta-gene; Cooleys anemia: both b-genes defective:does not present until later in first or second year;Anemia-blood transfusions

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Tyrosinemia

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Cabbage like odor; liver failure; renal acidosis; accumulation of fumarylacetacetate and succinyl acetone in urine

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Vitamin A deficiency

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Deficiency: Night blindness; severe deficiency: xerophthalmia:(dry eye which can lead to corneal ulceration and blindness

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Vitamin B12 deficiency

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Intrinsic Factor :Pernicious Anemia--> irreversible neuropsychiatric symptoms: Nutritional: vegan; Malnutrition; Megaloblastic anemia; Methylmalonic Aciduria

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vitamin B6 deficiency

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Seborrhoeic dermatitis-like eruption; glossitis with ulceration; angular cheilitis; conjunctivitis; neurologic symptoms of somnolence; confusion; and neuropathy

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Vitamin K deficiency

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Hypoprothrombinemia; bleeding; May be due to malabsorption of fat

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von Gierke Disease; GSD Type 1a

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Fasting hypoglycemia; Hyperlactacidemia; Hyperlidpidemia; Hyperuricemia;Excessive Hepatic Glycogen stores

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Von Willebrand Disease

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Tendency to Bleed; Nosebleeds;most common inherited coagulation abnormality in humans

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Wernicke-Korsakoff Syndrome

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Korsakoff syndrome:Apathy; loss of memory hallucinations; Wernicke encephalopathy: nystagmus; double vision; ataxia

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Xeroderma pigmentosum

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Sensitive to UV light-Tissue scarring--> can lead to partial lose of tissue (nose etc)