IMDs

5. Disorders of the metabolism of cofactors and minerals

5.1 Disorders of vitamin and cofactor metabolism

a. Disorders of tetrahydrobiopterin metabolism

  • Autosomal recessive GTP cyclohydrolase 1 deficiency
  • Autosomal dominant GTP cyclohydrolase 1 deficiency
  • 6-pyruvoyl-tetrahydropterin synthase deficiency
  • Sepiapterin reductase deficiency
  • Dihydropteridine reductase deficiency
  • Pterin-4-alpha-carbinolamine dehydratase deficiency (Primapterinuria; maturity-onset diabetes of the young (MODY) with hypomagnesemia and renal magnesium loss)

b. Disorders of thiamine metabolism

  • Thiamine transporter 1 deficiency (Thiamine-responsive megaloblastic anemia; Rogers syndrome; thiamine metabolism dysfunction syndrome type 1)
  • Thiamine transporter 2 deficiency (Biotin-thiamine-responsive basal ganglia disease; thiamine metabolism dysfunction syndrome type 2)
  • Thiamine pyrophosphokinase deficiency (Thiamine metabolism dysfunction syndrome type 5)
  • Mitochondrial thiamine pyrophosphate transporter deficiency (Amish lethal microcephaly, thiamine metabolism dysfunction syndrome type 3, severe; bilateral striatal necrosis and progressive polyneuropathy, thiamine metabolism dysfunction syndrome type 4, milder)

c. Disorders of riboflavin metabolism

  • Riboflavin transporter 1 deficiency (Transient riboflavin deficiency)
  • Riboflavin transporter 2 deficiency (Brown-Vialetto-van Laere syndrome type 2)
  • Riboflavin transporter 3 deficiency (Brown-Vialetto-van Laere syndrome type 1)
  • Flavin adenine dinucleotide synthetase deficiency
  • Mitochondrial flavin adenine dinucleotide transporter deficiency (Riboflavin-responsive exercise intolerance)

d. Disorders of niacin and NAD metabolism

  • Nicotinamide mononucleotide adenylyl transferase 1 deficiency (Leber congenital amaurosis 9)
  • NAD synthetase 1 deficiency (Vertebral, cardiac, renal, and limb defects syndrome type 3)
  • Mitochondrial NAD kinase 2 deficiency (2,4-dienoyl-CoA reductase deficiency with hyperlysinemia)
  • NAD(P)HX dehydratase deficiency (CARKD deficiency)
  • NAD(P)HX epimerase deficiency (Apolipoprotein A-I binding protein deficiency)
  • Nicotinamide nucleotide transhydrogenase deficiency (Glucocorticoid deficiency type 4)

e. Disorders of pantothenate and CoA metabolism

  • Pantothenate kinase 2 deficiency (Pantothenate kinase-associated neurodegeneration – PKAN; neurodegeneration with brain iron accumulation type 1)
  • Phosphopantothenoylcysteine synthetase deficiency (Autosomal recessive dilated cardiomyopathy)
  • Coenzyme A synthase deficiency (Coenzyme A synthase protein-associated neurodegeneration – CoPAN; neurodegeneration with brain iron accumulation type 6)
  • Mitochondrial coenzyme A transporter deficiency

f. Disorders of pyridoxine metabolism

  • Alpha-aminoadipic semialdehyde dehydrogenase deficiency (Pyridoxine-dependent epilepsy)
  • Pyridoxamine 5′-phosphate oxidase deficiency
  • Pyridoxal kinase deficiency
  • Pyridoxal 5′-phosphate binding protein deficiency (PROSC deficiency)
  • Tissue-nonspecific alkaline phosphatase deficiency (Hypophosphatasia)
  • Intestinal alkaline phosphatase anchoring deficiency

g. Disorders of biotin metabolism

  • Biotinidase deficiency
  • Holocarboxylase synthetase deficiency
  • Sodium-dependent multivitamin transporter deficiency

h. Disorders of folate metabolism

  • Proton-coupled folate transporter deficiency (Hereditary folate malabsorption)
  • Folate receptor alpha deficiency (Neurodegeneration due to cerebral folate transport deficiency)
  • Folate transporter 1 deficiency
  • 5,10-methylenetetrahydrofolate reductase deficiency
  • Methylenetetrahydrofolate dehydrogenase 1 deficiency (Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia – CIMAH)
  • 5,10-methenyltetrahydrofolate synthetase deficiency (5-formyltetrahydrofolate cycloligase deficiency)
  • Dihydrofolate reductase deficiency
  • Formimidoyltransferase cyclodeaminase deficiency (Formiminoglutamic aciduria)
  • Mitochondrial 10-formyltetrahydrofolate dehydrogenase deficiency

i. Disorders of cobalamin metabolism

  • Hereditary intrinsic factor deficiency
  • Cubilin deficiency (Imerslund-Gräsbeck disease, Finnish type)
  • Amnionless deficiency (Imerslund-Gräsbeck disease, Norwegian type)
  • Haptocorrin deficiency (Transcobalamin I deficiency)
  • Transcobalamin II deficiency
  • Transcobalamin receptor deficiency
  • Methylmalonic aciduria and homocystinuria, cblF type
  • Methylmalonic aciduria and homocystinuria, cblJ type
  • Methylmalonic aciduria and homocystinuria, cblC type
  • Epi-cblC
  • Methylmalonic aciduria and homocystinuria, cblD type
  • Homocystinuria, cblDv1 type
  • Methylmalonic aciduria, cblDv2 type
  • Methylmalonic aciduria, cblA type
  • Methylmalonic aciduria, cblB type
  • Methionine synthase reductase deficiency (Homocystinuria-megaloblastic anemia, cblE type)
  • Methylmalonic aciduria and homocystinuria, cblX type
  • Methylmalonic aciduria and homocystinuria due to ZNF143 deficiency
  • Methylmalonic aciduria and homocystinuria due to Ronin deficiency

j. Disorders of molybdenum cofactor metabolism

  • Cyclic pyranopterin monophosphate synthase deficiency (Molybdenum cofactor deficiency type A)
  • Molybdopterin synthase deficiency (Molybdenum cofactor deficiency type B)
  • Molybdopterin synthase sulfurase deficiency
  • Gephyrin deficiency (Molybdenum cofactor deficiency type C)
  • Molybdenum cofactor sulfurase deficiency (Xanthinuria type 2)

k. Other disorders of vitamin metabolism

  • Alpha-tocopherol transfer protein deficiency (Ataxia with isolated vitamin E deficiency)
  • Gamma-glutamyl carboxylase deficiency (Combined deficiency of vitamin K-dependent coagulation factors type 1)
  • Vitamin K epoxide reductase deficiency (Combined deficiency of vitamin K-dependent coagulation factors type 2)
  • Microsomal epoxide hydrolase deficiency (Familial hypercholanemia)
  • Menaquinone-4 synthetase deficiency (Schnyder corneal dystrophy)
  • L-dehydroascorbate transporter deficiency (GLUT1 deficiency; arterial tortuosity syndrome)

5.2 Disorders of trace elements and metals

a. Disorders of copper metabolism

  • Copper-transporting ATPase subunit beta deficiency (Wilson disease; hepatolenticular degeneration)
  • Copper-transporting ATPase subunit alpha deficiency (Menkes disease, severe; occipital horn syndrome (milder)
  • X-linked distal spinal muscular atrophy type 3
  • MEDNIK syndrome
  • MEDNIK-like syndrome
  • Acetyl-CoA transporter deficiency (Huppke-Brendel syndrome; congenital cataracts, hearing loss, and neurodegeneration)
  • Deficiency of copper chaperone for superoxide dismutase

b. Disorders of iron metabolism

  • Hereditary hemochromatosis type 1
  • Hemojuvelin deficiency (Hereditary hemochromatosis type 2A)
  • Hepcidin deficiency (Hereditary hemochromatosis type 2B)
  • Transferrin receptor 2 deficiency (Hereditary hemochromatosis type 3)
  • Ferroportin deficiency (Hereditary hemochromatosis type 4; ferroportin disease)
  • BMP6 deficiency
  • Ferritin heavy chain dysregulation (Hereditary hemochromatosis type 5)
  • Ferritin light chain deficiency (Hereditary L-ferritin deficiency)
  • Ferritin light chain superactivity (Neuroferritinopathy; neurodegeneration with brain iron accumulation type 3)
  • Hyperferritinemia-cataract syndrome
  • Hereditary ceruloplasmin deficiency (Aceruloplasminemia)
  • Matriptrase 2 deficiency (Iron-refractory iron deficiency anemia – IRIDA)
  • Hereditary transferrin deficiency (Atransferrinemia)
  • Transferrin receptor deficiency (Immunodeficiency type 46)
  • Divalent metal transporter 1 deficiency (Hypochromic microcytic anemia with iron overload type 1)
  • Endosomal ferrireductase deficiency (Hypochromic microcytic anemia with iron overload type 2)
  • Hephaestin-like protein 1 deficiency

c. Disorders of manganese metabolism

  • Hypermanganesemia with dystonia type 1
  • SLC39A14 deficiency (Hyperostosis cranialis interna, dominant; hypermanganesemia with dystonia type 2, recessive)
  • SLC39A8 deficiency

d. Disorders of zinc metabolism

  • Acrodermatitis enteropathica
  • Transient neonatal zinc deficiency
  • Spondylocheirodysplastic Ehlers-Danlos syndrome
  • Birk-Landau-Perez syndrome
  • Asymptomatic familial hyperzincemia
  • Hyperzincemia with hypercalprotectinemia (Pyogenic sterile arthritis, pyoderma gangrenosum, and acne)

e. Other disorders of trace element metabolism

  • Selenocysteine insertion sequence-binding protein 2 deficiency
  • O-phosphoseryl-tRNA(Sec) selenium transferase deficiency (Selenocysteinyl-tRNA synthase deficiency; progressive cerebellocerebral atrophy; pontocerebellar hypoplasia type 2D)

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