Prominent metabolic diseases

disorder cause signs and symptoms treatment

cystinosis lysosomal cystine transporter defect rickets, dehydration, stunted growth, kidney disease, corneal deposits supportive therapy, cysteamine, kidney transplantation

cystinuria cystine and dibasic amino acid transporter defect kidney stones high fluid intake, urine alkalinization, oral sulfhydryl agents

Fabry disease (Fabry's disease) deficiency of alpha-galactosidase A kidney failure, pain, skin lesions, cloudy corneas and lenses, heart disease pain management, dialysis, kidney transplantation, enzyme replacement therapy (experimental)

galactosemia deficiency of galactose-1-phosphate uridyltransferase jaundice, liver dysfunction, lethargy, weight loss, kidney disease, susceptibility to infection, cataracts exclusion of galactose from the diet

Gaucher disease (type I) defect of beta-glucocerebrosidase enlarged liver and spleen, bone disease, lipid-laden cells in bone marrow enzyme replacement therapy, splenectomy, orthopedic procedures

Hartnup disease neutral amino acid transport defect ataxia, rash, mental and psychiatric abnormalities supplementation of nicotinamide, high-protein diet

homocystinuria defect in cystathionine beta-synthase pronounced flush of the cheeks, thin, tall frame, lens dislocation, vascular disease, osteoporosis, possible mental retardation, psychiatric abnormalities vitamin B₆, folic acid, vitamin B₁₂, betaine, low-dose aspirin, dietary restriction of protein and methionine

Hunter syndrome (Hunter's syndrome) deficiency of iduronate 2-sulfatase coarse features, enlarged liver and spleen, growth deficiency, probable mental deficiency, heart disease, bone abnormalities supportive therapy, enzyme replacement therapy (experimental)

Hurler syndrome (Hurler's syndrome) deficiency of alpha-L-iduronidase mental retardation, cloudy corneas, enlarged liver and spleen, coarse features, cardiac failure, stiff joints, bone abnormalities supportive therapy, enzyme replacement therapy

Lesch-Nyhan syndrome deficiency of hypoxanthine-guanine phosphoribosyltransferase neurological impairment, mental retardation, gout, kidney stones, kidney failure, self-mutilation high fluid intake, urine alkalinization, allopurinol, extraction of teeth, protective physical devices

maple syrup urine disease deficiency of branched-chain alpha-keto acid dehydrogenase complex neurological deterioration, maple syrup smell to urine, muscular tension, mental retardation protein restriction, formulas deficient in branched-chain amino acids, thiamin for milder forms

Maroteaux-Lamy syndrome deficiency of arylsulfatase B coarse features, stiff joints, cloudy corneas, enlarged liver and spleen, skeletal involvement supportive therapy, enzyme replacement therapy (experimental)

Morquio syndrome deficiency of N-acetylgalactosamine-6-sulfatase or beta-galactosidase coarse features, cloudy corneas, spinal curvature, knock-knees and other severe skeletal abnormalities, severe short stature supportive therapy

Niemann-Pick disease (type A) deficiency of sphingomyelinase neurological deterioration, “cherry-red” spot on the retina of the eye, enlarged liver and spleen, lipid-laden cells in bone marrow, pulmonary disease, liver dysfunction supportive therapy

phenylketonuria low activity of phenylalanine hydroxlase developmental delay, light features, behaviour disturbances, mental retardation if untreated diet low in phenylalanine and protein, including special formula

Pompe disease (Pompe's disease) lack of alpha-1,4-glucosidase diminished muscle tone, heart failure, enlarged tongue supportive therapy, enzyme replacement therapy (experimental)

porphyria heme biosynthesis defects abdominal pain, nausea, vomiting, dark or red urine, rashes, neurological symptoms administration of heme, high-carbohydrate diet, avoidance of exacerbating factors

Scheie syndrome (Scheie's syndrome) mild deficiency of alpha-L-iduronidase cloudy corneas, joint limitation supportive therapy, enzyme replacement therapy

Tay-Sachs disease deficiency of beta-hexosaminidase A neurological deterioration, startle reaction to sound, seizures, “cherry-red” spot on the retina of the eye supportive therapy

tyrosinemia (hepatorenal) defect in fumarylacetoacetate hydrolase liver disease, liver cancer, peripheral nerve disease, kidney defects NTBC, a dietary restriction of phenylalanine and tyrosine, liver transplantation if necessary

von Gierke disease (von Gierke's disease) deficiency of glucose-6-phosphatase hypoglycemia, enlarged liver, dwarfism, gout, short stature, high blood lipids frequent feedings of glucose, liver transplantation if necessary