237 articles
2-aminoadipic 2-oxoadipic aciduria
2-aminoadipic 2-oxoadipic aciduria (AMOXAD, AAKAD, alpha-aminoadipic aciduria, OMIM 204750) is a rare autosomal recessive lysine, tryptophan, and hydroxylysine catabolism disorder caused by DHTKD1 variants, with excretion of 2-aminoadipic, 2-oxoadipic, and 2-hydroxyadipic acids and variable, often absent symptoms.
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMGCS2 deficiency, mitochondrial HMG-CoA synthase deficiency) is a rare autosomal recessive ketogenesis defect causing hypoketotic hypoglycemia, vomiting, and hepatomegaly during fasting or illness, treatable with glucose.
3-hydroxyisobutyric aciduria
3-hydroxyisobutyric aciduria (OMIM 236795) is a rare autosomal recessive organic aciduria of valine metabolism, marked by urinary 3-hydroxyisobutyric acid, ketoacidosis, dysmorphism, and variable severity; cause often unresolved.
3-methylcrotonyl-CoA carboxylase deficiency
3-methylcrotonyl-CoA carboxylase deficiency (3-MCC deficiency, 3-methylcrotonylglycinuria, MCCD) is an autosomal recessive leucine metabolism disorder caused by MCCC1 or MCCC2 mutations, with very low penetrance: most affected people stay asymptomatic, a few have metabolic crises treated with carnitine and fasting avoidance.
3-methylglutaconic aciduria type 1
3-methylglutaconic aciduria type 1 (MGCA1, OMIM #250950), or 3-methylglutaconyl-CoA hydratase deficiency, is a rare autosomal recessive AUH-gene leucine catabolism disorder with highly elevated urinary 3-methylglutaconic acid, variable neurologic severity, and newborn screening by C5-OH acylcarnitine.
3-methylglutaconic aciduria type 4
3-methylglutaconic aciduria type 4 (MGCA4, MGA4, OMIM 250951) is a heterogeneous, unclassified autosomal recessive metabolic category with mild or intermittent urinary 3-methylglutaconic acid excretion, defined by excluding 3-MGA types I-III, with SUCLA2, POLG1, TMEM70, and RYR1 subgroups and no specific treatment.
3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
3-methylglutaconic aciduria type 7 (MGA7, MEGCANN, CLPB deficiency), ORPHA:445038, is a rare autosomal recessive CLPB-related metabolic disorder with 3-methylglutaconic aciduria, cataract, neutropenia, and progressive neurologic disease, onset antenatal or neonatal.
5-oxoprolinase deficiency
5-oxoprolinase deficiency is an extremely rare autosomal recessive inborn error of glutathione metabolism, caused by OPLAH variants, that causes persistent 5-oxoprolinuria; its clinical significance is debated.
Abetalipoproteinemia
Abetalipoproteinemia (Bassen-Kornzweig syndrome), a rare autosomal recessive MTTP-related absence of apoB lipoproteins causing infant fat malabsorption, acanthocytosis, retinal and neuromuscular disease, treated with low-fat diet and vitamins A, D, E, K.
Acatalasemia
Acatalasemia (acatalasia, Takahara disease, catalase deficiency) is a rare autosomal recessive CAT-gene disorder with under 10% of normal blood catalase; usually asymptomatic, linked to oral gangrene and type 2 diabetes.
Aceruloplasminemia
Aceruloplasminemia (hereditary ceruloplasmin deficiency) is a rare autosomal recessive NBIA disorder caused by CP gene mutations, causing brain and visceral iron overload, anemia, diabetes, retinal degeneration, and adult-onset neurological decline.
Acidosis
Acidosis: pathologic acid accumulation or alkali loss lowering blood pH, classified as respiratory (CO2 retention from hypoventilation) or metabolic (low bicarbonate); diagnosed by blood gas, anion gap, and compensation formulas.
Acquired partial lipodystrophy
Acquired partial lipodystrophy (Barraquer-Simons syndrome, APL): rare acquired lipoatrophy of face, neck, and upper body sparing legs, with low C3, C3 nephritic factor, and MPGN risk.
Acute ackee fruit intoxication
Acute ackee fruit intoxication, or Jamaican vomiting sickness, is hypoglycin A poisoning from unripe Blighia sapida fruit, causing vomiting, toxic hypoglycemia, seizures, coma, and sometimes death.
Adenosine monophosphate deaminase deficiency
Adenosine monophosphate deaminase deficiency (myoadenylate deaminase deficiency, AMPD1 deficiency) is an autosomal recessive metabolic myopathy caused mainly by the AMPD1 C34-T nonsense mutation, causing exercise-induced fatigue, cramps, and myalgia in a minority of homozygotes.
Adult Refsum disease
Adult Refsum disease, also called classic Refsum disease, is a rare autosomal recessive peroxisomal disorder (PHYH, PEX7) causing phytanic acid accumulation, retinitis pigmentosa, anosmia, neuropathy, and hearing loss, treated with a low-phytanic-acid diet.
AGel amyloidosis
AGel amyloidosis (Meretoja disease, familial amyloidosis Finnish type) is a rare autosomal dominant gelsolin (GSN) amyloidosis causing corneal lattice dystrophy, facial nerve paresis, and cutis laxa, concentrated in Finland, with near-normal life expectancy and only symptomatic treatment.
ALG1-CDG
ALG1-CDG (formerly CDG-Ik, OMIM 608540) is a rare autosomal recessive N-glycosylation disorder caused by biallelic ALG1 variants on 16p13, impairing the first mannose addition step, with severe neurological multisystem disease and a diagnostic xeno-tetrasaccharide biomarker.
Alkaptonuria
Alkaptonuria (AKU, alcaptonuria) is a rare autosomal recessive HGD-enzyme deficiency causing homogentisic acid buildup, dark urine, ochronosis, and spinal arthritis; nitisinone is the first disease-modifying treatment.
Alpha-mannosidosis
Alpha-mannosidosis (lysosomal alpha-D-mannosidase deficiency) is a rare autosomal recessive lysosomal storage disorder caused by MAN2B1 mutations on chromosome 19, marked by immune deficiency, skeletal and facial abnormalities, hearing loss, and intellectual decline; treated with velmanase alfa ERT.
Alpha-N-acetylgalactosaminidase deficiency
Alpha-N-acetylgalactosaminidase deficiency, also known as Schindler disease or NAGA deficiency, is a very rare lysosomal storage disease first described in 1987, caused by deficient activity of the NAGA enzyme.
Alström syndrome
Alström syndrome is a rare autosomal recessive multisystem genetic disorder caused by ALMS1 variants, first described in 1959, causing blindness, hearing loss, obesity, diabetes, and heart failure.
Aminoaciduria
Aminoaciduria: excess amino acids in urine from overproduction or failed renal tubular reabsorption (ICD-11 GB90.47). Seen in Fanconi syndrome, cystinuria, Hartnup disease, lysinuric protein intolerance; over 99% of filtered amino acids are normally reabsorbed.
Aminoacylase 1 deficiency
Aminoacylase 1 deficiency (ACY1D, OMIM 609924) is a rare autosomal recessive inborn error of metabolism caused by ACY1 gene mutations, marked by urinary N-acetylated amino acids and variable neurological symptoms, from seizures to asymptomatic.
Arsenic poisoning
Arsenic poisoning: illness from exposure to toxic inorganic arsenic, mainly via contaminated groundwater and food. WHO guideline 10 μg/L; 140 million people in 70+ countries exposed; Bangladesh crisis largest mass poisoning in history.
Aspartylglucosaminuria
Aspartylglucosaminuria (AGU, aspartylglucosaminidase deficiency) is a rare autosomal recessive lysosomal storage disorder from biallelic AGA variants on 4q34.3, enriched in Finland, causing developmental delay, neurodegeneration, and premature death; AAV9 gene therapy is in trials.
Atypical Werner syndrome
Atypical Werner syndrome (AWS): clinically diagnosed Werner syndrome without WRN mutations, usually from heterozygous LMNA mutations; autosomal dominant, onset in the early 20s or earlier, faster progression than classical WS, prevalence under 1 in 1,000,000.
Beta-mannosidosis
Beta-mannosidosis (beta-mannosidase deficiency, lysosomal beta A mannosidosis) is an ultra-rare autosomal recessive lysosomal storage disorder caused by MANBA variants, with intellectual disability, hearing loss, angiokeratomas, and about 46 reported human cases.
Bifunctional enzyme deficiency
Bifunctional enzyme deficiency (D-bifunctional protein deficiency, DBIF, pseudo-Zellweger syndrome) is a rare autosomal recessive peroxisomal beta-oxidation disorder caused by HSD17B4 mutations, causing neonatal hypotonia, seizures, and VLCFA accumulation.
Biochemical variant galactosemia
Biochemical variant galactosemia, also called Duarte galactosemia, is a mild form of GALT deficiency, found in newborn screening, that causes no symptoms and needs no treatment or diet restriction.