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Condition report · Metabolic

Fatty Acid Oxidation Disorders

Inherited conditions in which the body cannot properly break down fat for energy, including MCAD deficiency, primary carnitine deficiency and CPT1A and CPT2 deficiency. Problems usually appear during fasting, illness or prolonged exercise and are largely preventable once known.

A condition report looks for rare variants known to cause the conditions it covers.

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The 4 conditions we analyse

Disorders of Fatty Acid Oxidation and Ketogenesis

Autosomal recessive

A group of enzyme and transporter defects, including MCAD, VLCAD, LCHAD, SCAD and HADH deficiency, primary carnitine deficiency and carnitine-acylcarnitine translocase deficiency, that can cause low blood sugar, muscle breakdown, heart and liver problems during periods of fasting or illness.

What a diagnosis changes

Knowing allows avoidance of prolonged fasting, an emergency plan for illness and, where relevant, carnitine or dietary fat modification, which can prevent life-threatening episodes.

Genes analysed

Includes 19 related subtypes ↓
  • 3-hydroxy-3-methylglutaric aciduria
  • 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
  • 3-hydroxyacyl-CoA dehydrogenase deficiency
  • acyl-CoA dehydrogenase 9 deficiency
  • acyl-CoA dehydrogenase deficiency
  • carnitine-acylcarnitine translocase deficiency
  • glutaric acidemia IIa
  • glutaric acidemia IIb
  • glutaric acidemia IIc
  • long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
  • long chain acyl-CoA dehydrogenase deficiency
  • medium chain acyl-CoA dehydrogenase deficiency
  • multiple acyl-CoA dehydrogenase deficiency
  • multiple acyl-CoA dehydrogenase deficiency, mild type
  • multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
  • short chain acyl-CoA dehydrogenase deficiency
  • systemic primary carnitine deficiency disease
  • transient neonatal multiple acyl-CoA dehydrogenase deficiency
  • very long chain acyl-CoA dehydrogenase deficiency
MONDO:0017713Orphanet 309115MedGen 1843280

Carnitine Palmitoyltransferase 1A Deficiency

Autosomal recessive

Caused by variants in CPT1A, which can cause episodes of low blood sugar and liver dysfunction in young children, typically triggered by fasting or illness.

What a diagnosis changes

Knowing allows avoidance of fasting and prompt treatment with glucose during illness.

Genes analysed

Also known as

Carnitine palmitoyl transferase 1 deficiency; Carnitine palmitoyl transferase IA deficiency; carnitine palmitoyltransferase I deficiency; cpt deficiency, hepatic, type IA; CPT1A deficiency; CPT1A disorder of carnitine cycle and carnitine transport; disorder of carnitine cycle and carnitine transport caused by mutation in CPT1A; hepatic carnitine palmitoyl transferase 1 deficiency; hepatic carnitine palmitoyl transferase I deficiency; hepatic carnitine palmitoyltransferase 1 deficiency; hepatic CPT1; L-CPT 1 deficiency; L-CPT1 deficiency; L-CPTI deficiency

MONDO:0009705OMIM 255120Orphanet 156MedGen 316820

Carnitine Palmitoyltransferase II Deficiency

Autosomal recessive

Caused by variants in CPT2; the common adult form causes episodes of muscle pain and muscle breakdown (rhabdomyolysis) after prolonged exercise, fasting, cold or illness, while rare infantile forms are severe.

What a diagnosis changes

Knowing helps avoid triggers, guides safe exercise and fasting habits, and supports fast treatment of muscle breakdown to protect the kidneys.

Genes analysed

Also known as

Carnitine palmitoyltransferase 2 deficiency; Carnitine palmitoyltransferase deficiency type 2; Carnitine palmitoyltransferase II (CPT II) deficiency; CPT II deficiency; CPT2; CPTII

Includes 3 related subtypes ↓
  • carnitine palmitoyl transferase II deficiency, myopathic form
  • carnitine palmitoyl transferase II deficiency, neonatal form
  • carnitine palmitoyl transferase II deficiency, severe infantile form
MONDO:0015515Orphanet 157MedGen 137978

Mitochondrial Trifunctional Protein Deficiency

Autosomal recessive

Caused by variants in HADHA or HADHB, which can cause low blood sugar, heart and liver problems, muscle breakdown, and later nerve damage.

What a diagnosis changes

Knowing allows a low long-chain-fat diet with medium-chain fat supplements and an emergency plan for illness.

Genes analysed

Also known as

MTPD; TFP deficiency; TFPD

Includes 2 related subtypes ↓
  • mitochondrial trifunctional protein deficiency 1
  • mitochondrial trifunctional protein deficiency 2
MONDO:0012172Orphanet 746MedGen 370665

Example variants this report looks at

For each condition, a few of the variants ClinVar classifies under it, those with most review stars. Each page describes ClinVar's public record of the variant, never a result.

VariantGeneClinVar classificationReview status
A141Gfs*9ACADVLLikely pathogenic3 stars out of 4 reviewed by expert panel
A180TACADVLLikely pathogenic3 stars out of 4 reviewed by expert panel
A213PACADVLLikely pathogenic3 stars out of 4 reviewed by expert panel

164 more variants under Disorders of Fatty Acid Oxidation and Ketogenesis have a page. Every variant, by gene:

Other metabolic conditions

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