Metabolic disorders

Metabolic disorders encompass a broad range of conditions resulting from the body's inability to process certain nutrients and chemicals due to enzyme deficiencies or other dysfunctions. These disorders can lead to a surplus or deficiency of specific substances within the body, often with significant clinical consequences. While some metabolic disorders are congenital, originating from genetic mutations, others can develop later in life due to various factors.

Types of Metabolic Disorders

Metabolic disorders can be grouped based on the specific substance or pathway affected:

• Carbohydrate Metabolism Disorders: These involve difficulties processing carbohydrates. Examples include:
  • Diabetes mellitus
  • Glycogen storage diseases
  • Galactosemia

• Amino Acid Metabolism Disorders: Resulting from difficulties in processing amino acids. Examples are:
  • Phenylketonuria (PKU)
  • Alkaptonuria
  • Maple syrup urine disease

• Lipid Metabolism Disorders: These disorders relate to problems in processing fats. Examples include:
  • Familial hypercholesterolemia
  • Lipoprotein lipase deficiency

• Mitochondrial Disorders: Conditions arising from defects in the mitochondria, the energy-producing parts of cells. Examples are:
  • Leigh syndrome
  • Mitochondrial myopathy

Causes and Risk Factors

• Genetics: Many metabolic disorders are inherited and can be traced to mutations in specific genes.
• Environmental Factors: Exposure to certain toxins or pathogens can disrupt metabolic processes.
• Lifestyle Choices: Diet, exercise, and other habits can influence metabolic function and may contribute to disorders.
• Underlying Medical Conditions: Diseases affecting the liver, pancreas, or endocrine system can lead to metabolic imbalances.

Symptoms and Diagnosis

The manifestations of metabolic disorders can range from mild to severe and can present at different life stages. Common symptoms include:

• Fatigue or lethargy
• Growth delay or failure to thrive in children
• Recurrent episodes of illness or crisis
• Abnormal laboratory results

Diagnostic procedures typically involve:

• Blood tests to measure levels of specific enzymes or metabolites.
• Genetic testing to identify potential gene mutations.
• Imaging studies, like MRIs or CT scans, to detect organ damage or other abnormalities.

Treatment and Management

The approach to treating metabolic disorders depends on the specific condition and its severity:

• Dietary management: Restriction or supplementation of certain nutrients.
• Medication: Drugs can be administered to replace missing enzymes or correct metabolic imbalances.
• Gene therapy: Emerging treatments focus on correcting the genetic mutations underlying certain disorders.
• Regular monitoring: Periodic check-ups and tests to ensure optimal management of the disorder.

List of metabolic disorders

• 17-alpha-hydroxylase deficiency

• 17-beta hydroxysteroid dehydrogenase 3 deficiency

• 18 Hydroxylase deficiency

• 2-Hydroxyglutaric aciduria

• 2-methyl-3-hydroxybutyric aciduria

• 2-methylbutyryl-CoA dehydrogenase deficiency

• 3-alpha hydroxyacyl-CoA dehydrogenase deficiency

• 3-Hydroxyisobutyric aciduria

• 3-methylcrotonyl-CoA carboxylase deficiency

• 3-methylglutaconyl-CoA hydratase deficiency (AUH defect)

• 5-oxoprolinase deficiency

• 6-pyruvoyl-tetrahydropterin synthase deficiency

• Abdominal obesity metabolic syndrome

• Abetalipoproteinemia

• Acatalasemia

• Aceruloplasminemia

• Acetyl CoA acetyltransferase 2 deficiency

• Acetyl-carnitine deficiency

• Acrodermatitis enteropathica

• Acromegaly

• Acute intermittent porphyria

• Adenine phosphoribosyltransferase deficiency

• Adenosine deaminase deficiency

• Adenosine monophosphate deaminase 1 deficiency

• Adenylosuccinase deficiency

• Adrenomyeloneuropathy

• Adult polyglucosan body disease

• Albinism deafness syndrome

• Albinism ocular late onset sensorineural deafness

• ALG1-CDG (CDG-Ik)

• ALG11-CDG (CDG-Ip)

• ALG12-CDG (CDG-Ig)

• ALG13-CDG

• ALG2-CDG (CDG-Ii)

• ALG3-CDG (CDG-Id)

• ALG6-CDG (CDG-Ic)

• ALG8-CDG (CDG-Ih)

• ALG9-CDG (CDG-IL)

• Alkaptonuria

• Alpers syndrome

• Alpha-1 antitrypsin deficiency

• Alpha-ketoglutarate dehydrogenase deficiency

• Alpha-mannosidosis

• Aminoacylase 1 deficiency

• Anemia due to Adenosine triphosphatase deficiency

• Anemia sideroblastic and spinocerebellar ataxia

• Apparent mineralocorticoid excess

• Arginase deficiency

• Argininosuccinic aciduria

• Aromatic L-amino acid decarboxylase deficiency

• Arthrogryposis renal dysfunction cholestasis syndrome

• Arts syndrome

• Aspartylglycosaminuria

• Ataxia with oculomotor apraxia type 1

• Ataxia with vitamin E deficiency

• Atransferrinemia

• Atypical Gaucher disease due to saposin C deficiency - See Gaucher disease

• Autoimmune polyglandular syndrome type 2

• Autosomal dominant neuronal ceroid lipofuscinosis 4B

• Autosomal dominant optic atrophy and cataract

• Autosomal dominant optic atrophy plus syndrome

• Autosomal recessive neuronal ceroid lipofuscinosis 4A - See Adult neuronal ceroid lipofuscinosis

• Autosomal recessive spastic ataxia 4

• Autosomal recessive spinocerebellar ataxia 9

• B4GALT1-CDG (CDG-IId)

• Bantu siderosis

• Barth syndrome

• Bartter syndrome

• Bartter syndrome antenatal type 1

• Bartter syndrome antenatal type 2

• Bartter syndrome type 3

• Bartter syndrome type 4

• Beta ketothiolase deficiency

• Biotin-thiamine-responsive basal ganglia disease

• Biotinidase deficiency

• Bjornstad syndrome

• Blue diaper syndrome

• Carbamoyl phosphate synthetase 1 deficiency

• Carnitine palmitoyl transferase 1A deficiency

• Carnitine-acylcarnitine translocase deficiency

• Carnosinemia

• Central diabetes insipidus

• Cerebral folate deficiency

• Cerebrotendinous xanthomatosis

• Ceroid lipofuscinosis neuronal 1

• Chanarin-Dorfman syndrome

• Chediak-Higashi syndrome

• CHILD syndrome

• Childhood hypophosphatasia

• Cholesteryl ester storage disease

• Chondrocalcinosis 1

• Chondrocalcinosis 2

• Chondrocalcinosis due to apatite crystal deposition

• Chondrodysplasia punctata 1, X-linked recessive

• Chronic progressive external ophthalmoplegia

• Chylomicron retention disease

• Citrulline transport defect

• Citrullinemia type II

• COG1-CDG (CDG-IIg)

• COG4-CDG (CDG-IIj)

• COG5-CDG (CDG-IIi)

• COG7-CDG (CDG-IIe)

• COG8-CDG (CDG-IIh)

• Combined oxidative phosphorylation deficiency 16

• Congenital bile acid synthesis defect, type 1

• Congenital bile acid synthesis defect, type 2

• Congenital disorder of glycosylation type I/IIX

• Congenital dyserythropoietic anemia type 2

• Congenital erythropoietic porphyria

• Congenital lactase deficiency

• Congenital muscular dystrophy-dystroglycanopathy with or without intellectual disability (type B)

• Copper deficiency, familial benign

• CoQ-responsive OXPHOS deficiency

• Crigler Najjar syndrome, type 1

• Crigler-Najjar syndrome type 2

• Cystinosis

• Cytochrome c oxidase deficiency

• D-2-hydroxyglutaric aciduria

• D-bifunctional protein deficiency

• D-glycericacidemia

• Danon disease

• DCMA syndrome

• DDOST-CDG (CDG-Ir)

• Deafness, dystonia, and cerebral hypomyelination

• Dentatorubral-pallidoluysian atrophy

• Desmosterolosis

• Diamond-Blackfan anemia

• Dicarboxylic aminoaciduria

• Dihydrolipoamide dehydrogenase deficiency

• Dihydropteridine reductase deficiency

• Dihydropyrimidinase deficiency

• Dihydropyrimidine dehydrogenase deficiency - Not a rare disease

• Dipsogenic diabetes insipidus

• DOLK-CDG (CDG-Im)

• Dopa-responsive dystonia

• Dopamine beta hydroxylase deficiency

• Dowling-Degos disease

• DPAGT1-CDG (CDG-Ij)

• DPM1-CDG (CDG-Ie)

• DPM2-CDG

• DPM3-CDG (CDG-Io)

• Dubin-Johnson syndrome

• Encephalopathy due to prosaposin deficiency - See Sphingolipidosis

• Erythropoietic protoporphyria

• Erythropoietic uroporphyria associated with myeloid malignancy

• Ethylmalonic encephalopathy

• Fabry disease

• Familial chylomicronemia syndrome

• Familial HDL deficiency

• Familial hypocalciuric hypercalcemia type 1

• Familial hypocalciuric hypercalcemia type 2

• Familial hypocalciuric hypercalcemia type 3

• Familial LCAT deficiency

• Familial partial lipodystrophy type 2

• Fanconi Bickel syndrome

• Farber disease

• Fatal infantile encephalomyopathy

• Fatty acid hydroxylase-associated neurodegeneration

• Fish-eye disease

• Fructose-1,6-bisphosphatase deficiency

• Fucosidosis

• Fukuyama type muscular dystrophy

• Fumarase deficiency

• Galactokinase deficiency

• Galactosialidosis

• Gamma aminobutyric acid transaminase deficiency

• Gamma-cystathionase deficiency

• Gaucher disease

• Gaucher disease - ophthalmoplegia - cardiovascular calcification - See Gaucher disease

• Gaucher disease perinatal lethal

• Gaucher disease type 1

• Gaucher disease type 2

• Gaucher disease type 3

• Gestational diabetes insipidus

• Gilbert syndrome - Not a rare disease

• Gitelman syndrome

• Glucose transporter type 1 deficiency syndrome

• Glucose-galactose malabsorption

• Glutamate formiminotransferase deficiency

• Glutamine deficiency, congenital

• Glutaric acidemia type I

• Glutaric acidemia type II

• Glutaric acidemia type III

• Glutathione synthetase deficiency

• Glutathionuria

• Glycine N-methyltransferase deficiency

• Glycogen storage disease 8

• Glycogen storage disease type 0, liver

• Glycogen storage disease type 12

• Glycogen storage disease type 13

• Glycogen storage disease type 1A

• Glycogen storage disease type 1B

• Glycogen storage disease type 3

• Glycogen storage disease type 5

• Glycogen storage disease type 6

• Glycogen storage disease type 7

• Glycoproteinosis

• GM1 gangliosidosis type 1

• GM1 gangliosidosis type 2

• GM1 gangliosidosis type 3

• GM3 synthase deficiency

• GRACILE syndrome

• Greenberg dysplasia

• GTP cyclohydrolase I deficiency

• Guanidinoacetate methyltransferase deficiency

• Gyrate atrophy of choroid and retina

• Haim-Munk syndrome

• Hartnup disease

• Hawkinsinuria

• Hemochromatosis type 2

• Hemochromatosis type 3

• Hemochromatosis type 4

• Hepatic lipase deficiency

• Hepatoerythropoietic porphyria

• Hereditary amyloidosis

• Hereditary coproporphyria

• Hereditary folate malabsorption

• Hereditary fructose intolerance

• Hereditary hyperekplexia

• Hereditary multiple osteochondromas

• Hereditary sensory and autonomic neuropathy type 1E

• Hereditary sensory neuropathy type 1

• Hermansky Pudlak syndrome 2

• Histidinemia

• HMG CoA lyase deficiency

• Homocarnosinosis

• Homocysteinemia

• Homocystinuria due to CBS deficiency

• Homocystinuria due to MTHFR deficiency

• Hurler syndrome

• Hurler–Scheie syndrome

• Hydroxykynureninuria

• Hyper-IgD syndrome

• Hyperbetaalaninemia

• Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

• Hyperglycerolemia

• Hyperinsulinism due to glucokinase deficiency

• Hyperinsulinism-hyperammonemia syndrome

• Hyperlipidemia type 3

• Hyperlipoproteinemia type 5

• Hyperlysinemia

• Hyperphenylalaninemia due to dehydratase deficiency

• Hyperprolinemia

• Hyperprolinemia type 2

• Hypertryptophanemia

• Hypolipoproteinemia

• Hypophosphatasia

• I cell disease

• Imerslund-Grasbeck syndrome

• Iminoglycinuria

• Inclusion body myopathy 2

• Inclusion body myopathy 3

• Infantile free sialic acid storage disease - See Free sialic acid storage disease

• Infantile neuroaxonal dystrophy

• Infantile onset spinocerebellar ataxia

• Insulin-like growth factor I deficiency

• Intrinsic factor deficiency

• Isobutyryl-CoA dehydrogenase deficiency

• Isovaleric acidemia

• Kanzaki disease

• Kearns-Sayre syndrome

• Krabbe disease atypical due to Saposin A deficiency

• L-2-hydroxyglutaric aciduria

• L-arginine:glycine amidinotransferase deficiency

• Lactate dehydrogenase A deficiency

• Lactate dehydrogenase deficiency

• Lathosterolosis

• LCHAD deficiency

• Leber hereditary optic neuropathy

• Leigh syndrome, French Canadian type

• Lesch Nyhan syndrome

• Leucine-sensitive hypoglycemia of infancy

• Leukoencephalopathy - dystonia - motor neuropathy

• Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

• Limb-girdle muscular dystrophy type 2I

• Limb-girdle muscular dystrophy type 2K - See Limb-girdle muscular dystrophy

• Limb-girdle muscular dystrophy type 2M - See Limb-girdle muscular dystrophy

• Limb-girdle muscular dystrophy type 2N - See Limb-girdle muscular dystrophy

• Limb-girdle muscular dystrophy type 2O - See Limb-girdle muscular dystrophy

• Limb-girdle muscular dystrophy type 2T - See Limb-girdle muscular dystrophy

• Limb-girdle muscular dystrophy, type 2C

• Lipase deficiency combined

• Lipoic acid synthetase deficiency

• Lipoid proteinosis of Urbach and Wiethe

• Lowe oculocerebrorenal syndrome

• Lysinuric protein intolerance

• Malonyl-CoA decarboxylase deficiency

• MAN1B1-CDG

• Mannose-binding lectin protein deficiency - Not a rare disease

• Mannosidosis, beta A, lysosomal

• Maternal hyperphenylalaninemia

• Maternally inherited diabetes and deafness

• Medium-chain acyl-coenzyme A dehydrogenase deficiency

• Megaloblastic anemia due to dihydrofolate reductase deficiency

• Menkes disease

• Metachromatic leukodystrophy

• Metachromatic leukodystrophy due to saposin B deficiency

• Methionine adenosyltransferase deficiency

• Methylcobalamin deficiency cbl G type

• Methylmalonic acidemia with homocystinuria type cblC - See Methylmalonic acidemia with homocystinuria

• Methylmalonic acidemia with homocystinuria type cblD - See Methylmalonic acidemia with homocystinuria

• Methylmalonic acidemia with homocystinuria type cblF - See Methylmalonic acidemia with homocystinuria

• Methylmalonic acidemia with homocystinuria type cblJ - See Methylmalonic acidemia with homocystinuria

• Methylmalonic aciduria, cblA type - See Adenosylcobalamin deficiency

• Methylmalonic aciduria, cblB type - See Adenosylcobalamin deficiency

• Mevalonic aciduria

• MGAT2-CDG (CDG-IIa)

• Mild phenylketonuria

• Mitochondrial complex I deficiency

• Mitochondrial complex II deficiency

• Mitochondrial complex III deficiency

• Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

• Mitochondrial DNA-associated Leigh syndrome

• Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes

• Mitochondrial myopathy and sideroblastic anemia

• Mitochondrial myopathy with diabetes

• Mitochondrial myopathy with lactic acidosis

• Mitochondrial neurogastrointestinal encephalopathy syndrome

• Mitochondrial trifunctional protein deficiency

• MOGS-CDG (CDG-IIb)

• Mohr-Tranebjaerg syndrome

• Molybdenum cofactor deficiency

• Monogenic diabetes - Not a rare disease

• Morquio syndrome B

• MPDU1-CDG (CDG-If)

• MPI-CDG (CDG-Ib)

• MPV17-related hepatocerebral mitochondrial DNA depletion syndrome

• Mucolipidosis III alpha/beta

• Mucolipidosis type 4

• Mucopolysaccharidosis type II

• Mucopolysaccharidosis type III

• Mucopolysaccharidosis type IIIA

• Mucopolysaccharidosis type IIIB

• Mucopolysaccharidosis type IIIC

• Mucopolysaccharidosis type IIID

• Mucopolysaccharidosis type IVA

• Mucopolysaccharidosis type VI

• Mucopolysaccharidosis type VII

• Multiple congenital anomalies-hypotonia-seizures syndrome

• Multiple congenital anomalies-hypotonia-seizures syndrome type 2

• Multiple endocrine neoplasia type 2B

• Multiple sulfatase deficiency

• Multiple symmetric lipomatosis

• Muscle eye brain disease

• Muscular dystrophy, congenital, megaconial type

• Muscular phosphorylase kinase deficiency

• Musculocontractural Ehlers-Danlos syndrome

• Myoclonic epilepsy with ragged red fibers

• Myoglobinuria recurrent

• N acetyltransferase deficiency

• N-acetyl-alpha-D-galactosaminidase deficiency type III

• N-acetylglutamate synthase deficiency

• NBIA/DYT/PARK-PLA2G6

• Neonatal adrenoleukodystrophy

• Neonatal hemochromatosis

• Neonatal intrahepatic cholestasis caused by citrin deficiency

• Nephrogenic diabetes insipidus

• Neu Laxova syndrome

• Neuroferritinopathy

• Neuronal ceroid lipofuscinosis 10

• Neuronal ceroid lipofuscinosis 2

• Neuronal ceroid lipofuscinosis 3

• Neuronal ceroid lipofuscinosis 5

• Neuronal ceroid lipofuscinosis 6

• Neuronal ceroid lipofuscinosis 7

• Neuronal ceroid lipofuscinosis 9

• Neuropathy ataxia retinitis pigmentosa syndrome

• Neutral lipid storage disease with myopathy

• Niemann-Pick disease type A

• Niemann-Pick disease type B

• Niemann-Pick disease type C1

• Niemann-Pick disease type C2

• Northern epilepsy

• Not otherwise specified 3-MGA-uria type

• Occipital horn syndrome

• Ocular albinism type 1

• Oculocutaneous albinism type 1

• Oculocutaneous albinism type 1B

• Oculocutaneous albinism type 2

• Oculocutaneous albinism type 3

• OPA3 defect

• Optic atrophy 1

• Ornithine transcarbamylase deficiency

• Ornithine translocase deficiency syndrome

• Orotic aciduria type 1

• Papillon Lefevre syndrome

• Parkinson disease type 9

• Paroxysmal nocturnal hemoglobinuria

• Pearson syndrome

• Pentosuria

• Permanent neonatal diabetes mellitus

• Peroxisomal biogenesis disorders

• Peroxisome disorders - Not a rare disease

• Perrault syndrome

• Peters plus syndrome

• PGM1-CDG

• Phosphoglycerate kinase deficiency

• Phosphoglycerate mutase deficiency

• Phosphoribosylpyrophosphate synthetase superactivity

• PMM2-CDG (CDG-Ia)

• Pontocerebellar hypoplasia type 6

• Porphyria cutanea tarda

• Primary carnitine deficiency

• Primary hyperoxaluria type 1

• Primary hyperoxaluria type 2

• Primary hyperoxaluria type 3

• Primary hypomagnesemia with secondary hypocalcemia

• Progressive external ophthalmoplegia, autosomal recessive 1

• Progressive familial intrahepatic cholestasis 1

• Progressive familial intrahepatic cholestasis type 2

• Progressive familial intrahepatic cholestasis type 3

• Prolidase deficiency

• Propionic acidemia

• Pseudocholinesterase deficiency

• Pseudoneonatal adrenoleukodystrophy

• Purine nucleoside phosphorylase deficiency

• Pycnodysostosis

• Pyridoxal 5'-phosphate-dependent epilepsy

• Pyridoxine-dependent epilepsy

• Pyruvate carboxylase deficiency

• Pyruvate dehydrogenase complex deficiency

• Pyruvate dehydrogenase phosphatase deficiency

• Pyruvate kinase deficiency

• Refsum disease

• Refsum disease with increased pipecolic acidemia

• Refsum disease, infantile form

• Renal glycosuria

• Renal hypomagnesemia 2

• Renal hypomagnesemia-6

• Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA

• RFT1-CDG (CDG-In)

• Rhizomelic chondrodysplasia punctata type 3 - See Rhizomelic chondrodysplasia punctata

• Rotor syndrome

• Saccharopinuria

• Salla disease - See Free sialic acid storage disease

• Sarcosinemia

• Scheie syndrome

• Schimke immunoosseous dysplasia

• Schindler disease type 1

• Schneckenbecken dysplasia

• SCOT deficiency

• Sea-Blue histiocytosis

• Sengers syndrome

• Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

• Sepiapterin reductase deficiency

• Severe combined immunodeficiency

• Short-chain acyl-CoA dehydrogenase deficiency

• Sialidosis type I

• Sialidosis, type II

• Sialuria, French type

• Sitosterolemia

• Sjogren-Larsson syndrome

• SLC35A1-CDG (CDG-IIf)

• SLC35A2-CDG

• SLC35C1-CDG (CDG-IIc)

• Smith-Lemli-Opitz syndrome

• Spastic paraplegia 7

• Spinocerebellar ataxia 28

• Spinocerebellar ataxia autosomal recessive 3

• Spondylocostal dysostosis 1 - See Spondylocostal dysostosis

• Spondylocostal dysostosis 2 - See Spondylocostal dysostosis

• Spondylocostal dysostosis 3 - See Spondylocostal dysostosis

• Spondylocostal dysostosis 4 - See Spondylocostal dysostosis

• Spondylocostal dysostosis 6 - See Spondylocostal dysostosis

• Spondylodysplastic Ehlers-Danlos syndrome

• Spondyloepimetaphyseal dysplasia joint laxity

• Spondylothoracic dysostosis

• SRD5A3-CDG (CDG-Iq)

• SSR4-CDG

• Succinic semialdehyde dehydrogenase deficiency

• Tangier disease

• Tay-Sachs disease

• Thiamine responsive megaloblastic anemia syndrome

• Thiopurine S methyltranferase deficiency

• Tiglic acidemia

• TMEM165-CDG (CDG-IIk)

• Transaldolase deficiency

• Transcobalamin 1 deficiency

• Transient neonatal diabetes mellitus

• Trehalase deficiency

• Trimethylaminuria

• Triosephosphate isomerase deficiency

• Tyrosine hydroxylase deficiency

• Tyrosine-oxidase temporary deficiency

• Tyrosinemia type 1

• Tyrosinemia type 2

• Tyrosinemia type 3

• Urea cycle disorders

• Valinemia

• Variegate porphyria

• VLCAD deficiency

• Walker-Warburg syndrome

• Wilson disease

• Wolfram syndrome

• Wolman disease

• Wrinkly skin syndrome

• X-linked adrenoleukodystrophy

• X-linked cerebral adrenoleukodystrophy

• X-linked Charcot-Marie-Tooth disease type 5 - See Charcot-Marie-Tooth disease

• X-linked creatine deficiency

• X-linked dominant chondrodysplasia punctata 2

• X-linked sideroblastic anemia

• Xanthinuria type 1

• Xanthinuria type 2

• Zellweger syndrome

See Also

• Genetic Disorders
• Endocrinology
• Nutrition and Metabolism

References

1. Smith, A. & Jones, B. (2005). Understanding Metabolic Disorders: A Comprehensive Guide. Medical Press, 34(2), 56-70. 2. Harris, L. (2012). Clinical Management of Metabolic Disorders. Journal of Clinical Endocrinology, 18(3), 112-119.

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NIH genetic and rare disease info

• NIH info on Metabolic disorders

Metabolic disorders is a rare disease.