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Overview of Fatty Acid and Glycerol Metabolism Disorders

By

Matt Demczko

, MD, Sidney Kimmel Medical College of Thomas Jefferson University

Last full review/revision Apr 2020| Content last modified Apr 2020
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Topic Resources

Fatty acids are the preferred energy source for the heart and an important energy source for skeletal muscle during prolonged exertion. Also, during fasting, the bulk of the body’s energy needs must be supplied by fat metabolism. Using fat as an energy source requires catabolizing adipose tissue into free fatty acid and glycerol. The free fatty acid is metabolized in the liver and peripheral tissue via beta-oxidation into acetyl CoA; the glycerol is used by the liver for triglyceride synthesis or for gluconeogenesis. Carnitine is required for long-chain fatty acid oxidation. Carnitine deficiencies can be primary or secondary. Secondary carnitine deficiency is a secondary biochemical feature of many organic acidemias and fatty acid oxidation defects.

There are a number of other disorders of fatty acid and glycerol metabolism, including those involving

Table
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Ketone Metabolism Disorders

Disease (OMIM Number)

Defective Proteins or Enzymes

Comments

3-Hydroxy-3-methylglutaryl-CoA synthase-2 deficiency (605911*)

3-Hydroxy-3-methylglutaryl-CoA synthase

Biochemical profile: See below

Clinical features: Episodic nonketotic hypoglycemia, encephalopathy, hepatomegaly

Treatment: Avoidance of fasting

3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (246450*)

3-Hydroxy-3-methylglutaryl-CoA lyase

Biochemical profile: Hypoglycemia, metabolic acidosis without ketonuria

Clinical features: Irritability, lethargy, vomiting

Treatment: Avoidance of fasting, leucine restriction

Succinyl-CoA:3-oxoacid-CoA transferase deficiency (245050*)

Succinyl-CoA 3-oxoacid-CoA transferase

Biochemical profile: Ketonuria

Clinical features: Severe episodic ketoacidosis, vomiting, hyperventilation

Treatment: Glucose during acute episodes plus judicious use of bicarbonate, high-carbohydrate diet with some restriction of protein and fat

Mitochondrial acetoacetyl-CoA thiolase deficiency (203750*)

Mitochondrial acetoacetyl-CoA thiolase

Biochemical profile: Severe metabolic acidosis, hypoglycemia, ketonuria

Clinical features: Lethargy, vomiting

Treatment: Avoidance of fasting

Cytoplasmic acetoacetyl-CoA thiolase deficiency (614055*)

Cytoplasmic acetoacetyl-CoA thiolase

Biochemical profile: Ketonuria

Clinical features: Intellectual disability, hypotonia

Treatment: Not established

* For complete gene, molecular, and chromosomal location information, see the Online Mendelian Inheritance in Man® (OMIM®) database.

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Other Fat Metabolism Disorders

Disease (OMIM Number)

Defective Proteins or Enzymes

Comments

Sjögren-Larsson syndrome (270200*)

Fatty aldehyde dehydrogenase

Biochemical profile: No readily detectable plasma or urinary abnormality

Clinical features: Ichthyosis, intellectual disability, spastic diplegia or tetraplegia, retinopathy, seizures

Treatment: Symptomatic; topical keratolytics or systemic retinoids, reduced long-chain fat and increased medium-chain triglycerides in diet

* For complete gene, molecular, and chromosomal location information, see the Online Mendelian Inheritance in Man® (OMIM®) database.

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