Dyslipidemias

Disease class: Lipid metabolism disorders

Types

• Hyperlipidemias
• Hypolipoproteinemias
• Smith-Lemli-Opitz syndrome

Refeeding syndrome

Disease class: Malnutrition

Pseudohypoparathyroidism

 Disease class: bone diseases, Metabolic
Disease class: Calcium metabolism disorders

Variants

• Pseudopseudohypoparathyroidism

 

See also

• Hyperparathyroidism
• Hypoparathyroidism

Calcinosis

Disease class: Calcium metabolism disorders

 

Friedreich ataxia

Disease class: Mitochondrial diseases

Disease class: Spinocerebellar degenerations

 

Glucose metabolism disorders

Disease class: Metabolic diseases

Inborn errors of metabolism

Disease class: Metabolic diseases

Lipid metabolism disorders

Disease class: Metabolic diseases

Types

• Dyslipidemias
• lipid metabolism, Inborn errors
• Lipodystrophy
• Lipidoses
• Lipomatosis
• Xanthomatosis

DNA repair-deficiency disorders

Disease class: Metabolic diseases

Familial mediterranean fever

Mitochondrial diseases

Disease class: Metabolic diseases

Types

• Carbamoyl-Phosphate synthase I deficiency disease
• Cytochrome-c oxidase deficiency
• Friedreich ataxia
• Kearns-Sayre syndrome
• Leigh disease
• Mitochondrial myopathies
• Multiple acyl coenzyme A dehydrogenase deficiency
• optic atrophy, Autosomal dominant
• optic atrophy, Hereditary, Leber
• Pyruvate carboxylase deficiency disease
• Pyruvate dehydrogenase complex deficiency disease
  

Homocystinuria

Disease class: Connective tissue diseases

Disease class: Hyperhomocysteinaemia

Disease class: Inborn metabolic brain diseases

 

Marchiafava-Bignami disease

Disease class: brain diseases, Metabolic

Mitochondrial encephalomyopathies

Disease class: brain diseases, Metabolic

Types

• MELAS syndrome 
• MERRF syndrome

Kernicterus

Disease class: brain diseases, Metabolic

Kernicterus is a bilirubin-induced brain dysfunction. 

Reye syndrome

Disease class: brain diseases, Metabolic

Disease class: Fatty liver

 

Metabolic brain diseases

Disease class: Brain diseases

Disease class: Metabolic diseases

• brain diseases, Metabolic, Inborn
• Hepatic encephalopathy
• Kernicterus
• Marchiafava-Bignami disease
• Mitochondrial encephalomyopathies
• myelinolysis, Central pontine
• Reye syndrome
• Wernicke encephalopathy 

Metabolic skin diseases

Disease class: Metabolic diseases

Disease class: Skin diseases

Types

• Lipodystrophy 
• Necrobiosis lipoidica

Water intoxication

Disease class: Water-electrolyte imbalance

Physiology

In healthy individuals, the kidneys and urinary tracts remove excessive water from the body to maintain an optimal blood pressure and plasma osmolality.
The kidneys employ several mechanisms to conserve the largest quantity of electrolyes possible when excreting large amounts of water.

 

Pathophysiology 

However, there is a limit to the rate of water excretion. Since water cannot be excreted without some loss of electrolytes, a large volume of water excreted results in a large derangement in electrolytes. It is possible, but uncomfortable to ingest water at a sufficient rate to overwhelm these systems.
The low osmolality may result in cerebral oedema, as water diffuses out of the blood (by osmosis) more easily.

 

Cause

• Extreme overconsumption of water (e.g. 7-8L in 24 hours) for any reason
• Overconsumption of water secondary to MDMA abuse

 

Management

• Fluid restriction
• Diuretics
• Vasopressin receptor antagonists

Hyponatraemia

Disease class: Water-electrolyte imbalance

This refers to sodium (natrium) levels in the blood below the reference range.

 

Management

• Sodium chloride

Beware: rapid reversal of hyponatraemia with aggressive treatment can cause a severe disease: central pontine myelinolysis. Sodium restoration must be very slow and gradual. Specialist advice should be sought.

See also

• Hypernatraemia