237 articles
Disorders of zinc metabolism
Disorders of zinc metabolism (ICD-10 E83.2, ICD-11 5C64.2) cover zinc deficiency states, chiefly acrodermatitis enteropathica (SLC39A4/Zip4) and transient neonatal zinc deficiency (SLC30A2), treated with oral zinc.
Dopamine beta-hydroxylase deficiency
Dopamine beta-hydroxylase deficiency (DBH deficiency, norepinephrine deficiency) is an autosomal recessive disorder of the DBH gene on 9q34 causing absent norepinephrine, dopamine accumulation, severe orthostatic hypotension, and ptosis, treated with droxidopa.
Dysbetalipoproteinemia
Dysbetalipoproteinemia (type III hyperlipoproteinemia, broad-beta disease, remnant removal disease) is a rare APOE-related combined hyperlipidemia with IDL remnant accumulation, 1/10,000 prevalence, and premature atherosclerosis risk.
Dyslipidemia
Dyslipidemia: abnormal blood lipid levels (high cholesterol, high triglycerides, high Lp(a), or low HDL-C), also called hyperlipidemia. Causes are genetic or secondary; treatment is lifestyle plus statins, guided by 2026 ACC/AHA PREVENT-based risk thresholds and LDL-C goals.
Essential fatty acid deficiency
Essential fatty acid deficiency (EFAD) results from inadequate linoleic and alpha-linolenic acid, causing scaly dermatitis and elevated triene:tetraene (Holman) index; seen mainly in fat-free parenteral nutrition and fat malabsorption.
Etiology
Etiology, from Greek aitia (cause), is the cause or origin of disease and the medical science studying disease causes, spanning microbial, genetic, environmental, and lifestyle factors and their pathogenesis.
Exercise-induced malignant hyperthermia
Exercise-induced malignant hyperthermia, also called awake MH or exertional heat stroke, is a rare RYR1-related disorder in which exercise and heat trigger hyperthermia above 40°C, encephalopathy, and rhabdomyolysis, treated with dantrolene rather than cooling alone.
Familial chylomicronemia syndrome
Familial Chylomicronemia Syndrome (FCS) is an autosomal recessive genetic disorder where lipoproteins accumulate, causing severe hypertriglyceridemia and pancreatitis, managed by strict diet and drugs like Olezarsen.
Familial combined hypolipidemia
Familial combined hypolipidemia (FHBL2, OMIM 605019), also called ANGPTL3 deficiency, a rare autosomal recessive panhypolipidemia with low LDL-C, HDL-C, triglycerides, apoB, and apoA-I, benign, no fatty liver, reduced cardiovascular risk.
Familial Hyperalphalipoproteinemia
Familial hyperalphalipoproteinemia (HALP1, ORPHA:181428) is a rare autosomal dominant disorder of very high HDL cholesterol, linked to CETP, SCARB1, and APOC3 variants, usually asymptomatic, with paradoxically variable cardiovascular risk.
Familial hypercholanemia
Familial hypercholanemia (hereditary hypercholanemia) is a very rare autosomal recessive disorder with elevated serum bile acids, itching, and fat malabsorption, reported in the Old Order Amish; genes include EPHX1, BAAT, and TJP2 (OMIM 607748).
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Dunnigan type (FPLD2), also called Dunnigan syndrome, is a rare genetic disorder in which fat is lost from the limbs and trunk and accumulates on the face and neck.
Fanconi-Bickel syndrome
Fanconi-Bickel syndrome (FBS), formerly glycogen storage disease XI, is a rare autosomal recessive disorder caused by SLC2A2 mutations, marked by hepatomegaly, short stature, rickets, and renal tubular dysfunction.
Farber disease
Farber disease (Farber lipogranulomatosis, acid ceramidase deficiency) is an ultra-rare autosomal recessive lysosomal storage disorder from ASAH1 mutations, causing ceramide buildup, painful deformed joints, subcutaneous nodules, and hoarseness, usually fatal in infancy.
Fatty acyl-CoA reductase 1 deficiency
Fatty acyl-CoA reductase 1 deficiency (FAR1 deficiency, PFCRD, RCDP type 4) is a rare autosomal recessive peroxisomal plasmalogen-biosynthesis disorder (FAR1, 11p15.3, OMIM 616154) causing severe intellectual disability, congenital cataracts, early-onset epilepsy, microcephaly, and spastic quadriparesis without rhizomelia.
Fluorine excess
Fluorine excess (ICD-11 5B91.3) is chronic excessive fluoride intake causing dental and skeletal fluorosis, mainly from high-fluoride groundwater, fluoride-rich coal, or tea; WHO water guideline is 1.5 mg/L.
Formiminoglutamic aciduria
Formiminoglutamic aciduria, also called FTCD deficiency, is a rare inherited folate metabolism disorder causing buildup of FIGLU, with symptoms ranging from developmental delay to none.
Free sialic acid storage disease
Free sialic acid storage disease (FSASD), also called Salla disease in its mild form and ISSD in its severe form, is a rare autosomal recessive lysosomal storage disorder caused by SLC17A5 (sialin) defects, causing lysosomal sialic acid accumulation, hypomyelination, ataxia, and elevated urinary free sialic acid.
Fructose-1,6-bisphosphatase deficiency
Fructose-1,6-bisphosphatase deficiency (FBPase deficiency, Baker-Winegrad disease, OMIM 229700) is a rare autosomal recessive FBP1 gluconeogenesis disorder causing fasting hypoglycemia and lactic acidosis episodes in infants, treatable with glucose and fasting avoidance.
Fucosidosis
Fucosidosis (alpha-L-fucosidase deficiency, OMIM 230000) is an ultra-rare autosomal recessive lysosomal storage disease caused by FUCA1 mutations, with progressive neurodegeneration, coarse facies, angiokeratomas, and recurrent infections.
Galactokinase deficiency
Galactokinase deficiency (GALK, galactosemia type II, OMIM 230200) is an autosomal recessive GALK1 enzyme defect causing galactitol-driven infantile cataract, sometimes pseudotumor cerebri, treated with a lifelong galactose-restricted diet.
Galactose epimerase deficiency
Galactose epimerase deficiency (GALE deficiency, galactosemia type III, OMIM 230350) is an autosomal recessive disorder of the GALE gene (1p36) with generalized, intermediate, and peripheral forms, treated by galactose-restricted diet.
Galactose mutarotase deficiency
Galactose mutarotase deficiency, or GALM deficiency, type IV galactosemia, is a rare autosomal recessive disorder of galactose metabolism caused by GALM gene variants, first defined in 2019 in Japan, causing neonatal galactosemia and cataracts.
Galactosialidosis
Galactosialidosis (Goldberg syndrome) is an autosomal recessive lysosomal storage disease caused by CTSA variants, causing combined beta-galactosidase and neuraminidase deficiency, in early infantile, late infantile, and juvenile/adult forms.
Gamma-glutamyl transpeptidase deficiency
Gamma-glutamyl transpeptidase deficiency (glutathionuria, OMIM 231950) is an ultra-rare autosomal recessive GGT1 enzyme defect causing high glutathione in plasma and urine, intellectual disability in most of about seven reported patients, and no specific treatment.
GCGR-related hyperglucagonemia
GCGR-related hyperglucagonemia, also called Mahvash disease, is a rare hereditary pancreatic disorder caused by mutations in the glucagon receptor gene, producing extreme hyperglucagonemia, alpha-cell hyperplasia, and neuroendocrine tumors.
Genetic hyperferritinemia without iron overload
Genetic hyperferritinemia without iron overload is an uncommon anomaly in which serum ferritin is high while serum iron, transferrin saturation, and tissue iron remain normal.
Glutamate-cysteine ligase deficiency
Glutamate-cysteine ligase deficiency (gamma-glutamylcysteine synthetase deficiency, OMIM 230450) is an ultra-rare autosomal recessive glutathione-synthesis disorder causing hemolytic anemia, sometimes with neuropathy, myopathy, or spinocerebellar degeneration.
Glutaric acidemia type 3
Glutaric acidemia type 3 (GA3, OMIM 231690), an autosomal recessive SUGCT (C7orf10) deficiency causing isolated urinary glutaric acid elevation with no consistent clinical phenotype, considered a probable non-disease.
Glutaryl-CoA dehydrogenase deficiency
Glutaryl-CoA dehydrogenase deficiency, also called glutaric acidemia type 1 or glutaric aciduria type 1, is an autosomal recessive neurometabolic disorder impairing lysine and tryptophan breakdown, affecting about 1 in 100,000 newborns worldwide.