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Condition report · Metabolic

Organic Acidurias

A group of inherited disorders in the breakdown of amino acids or ketones, including glutaric aciduria type 1, isovaleric acidemia and beta-ketothiolase deficiency. Early diet and emergency treatment during illness can prevent serious complications.

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

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The 6 conditions we analyse

Glutaric Aciduria Type 1

Autosomal recessive

Caused by variants in GCDH, which can lead to sudden damage to movement-control areas of the brain during illness in early childhood.

What a diagnosis changes

Knowing allows a lysine-restricted diet, carnitine and intensive emergency treatment during illness, which can prevent brain injury.

Genes analysed

Also known as

GA1; GCDHD; glutaric acidemia 1; glutaric acidemia type 1; glutaric acidemia type I; glutaricaciduria, type I; glutaryl-coenzyme A dehydrogenase deficiency

MONDO:0009281OMIM 231670Orphanet 25MedGen 124337

Isovaleric Acidemia

Autosomal recessive

Caused by variants in IVD, which can cause metabolic crises with a characteristic 'sweaty feet' odour, vomiting and lethargy.

What a diagnosis changes

Knowing allows protein restriction, glycine and carnitine supplements and emergency care during illness.

Genes analysed

Also known as

isovaleric acid CoA dehydrogenase deficiency; Isovalericacidemia; isovaleryl CoA carboxylase deficiency; isovaleryl-CoA dehydrogenase deficiency; IVA

MONDO:0009475OMIM 243500Orphanet 33MedGen 82822

3-Methylcrotonyl-CoA Carboxylase Deficiency

Autosomal recessive

Caused by variants in MCCC1 or MCCC2; many people have no symptoms, but some develop metabolic crises, particularly during illness.

What a diagnosis changes

Knowing supports awareness of illness-related risk and specialist advice where needed.

Genes analysed

Also known as

3-MCC deficiency; 3-methylcrotonylglycinuria; MCC deficiency; MCCD; Methylcrotonyl-CoA carboxylase deficiency

Includes 2 related subtypes ↓
  • 3-methylcrotonyl-CoA carboxylase 1 deficiency
  • 3-methylcrotonyl-CoA carboxylase 2 deficiency
MONDO:0018950Orphanet 6MedGen 1633312

3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency

Autosomal recessive

Caused by variants in HMGCL, which can cause episodes of low blood sugar without ketones and metabolic acidosis, especially during fasting.

What a diagnosis changes

Knowing allows avoidance of fasting, a low-protein, low-fat diet and an emergency plan.

Genes analysed

Also known as

3-OH 3-Methyl glutaric aciduria; defect in leucine metabolism; deficiency of hydroxymethylglutaryl-CoA lyase; HMG CoA lyase deficiency; HMGCLD; Hydroxymethylglutaric aciduria; hydroxymethylglutaryl-CoA lyase deficiency

MONDO:0009520OMIM 246450Orphanet 20MedGen 735832

Beta-Ketothiolase Deficiency

Autosomal recessive

Caused by variants in ACAT1, which can cause episodes of severe ketoacidosis triggered by illness or fasting.

What a diagnosis changes

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

Genes analysed

Also known as

3-ketothiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; BKT; mitochondrial acetoacetyl-CoA thiolase deficiency; mitochondrial acetoacetyl-coenzyme A thiolase deficiency; T2 deficiency

MONDO:0008760OMIM 203750Orphanet 134MedGen 280689

Malonic Aciduria

Autosomal recessive

Caused by variants in MLYCD, which can cause developmental delay, low blood sugar, heart muscle disease and metabolic acidosis.

What a diagnosis changes

Knowing allows a low-fat, high-carbohydrate diet, carnitine and heart monitoring.

Genes analysed

Also known as

malonic acidemia; Malonicaciduria; malonyl-CoA decarboxylase deficiency; MCD deficiency

MONDO:0009556OMIM 248360Orphanet 943MedGen 91001

Other metabolic conditions

All conditions →

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