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Condition report · Metabolic

Hereditary Fructose Intolerance

Inherited disorders affecting how the body handles fructose or makes new glucose between meals. Avoiding specific sugars or prolonged fasting usually prevents symptoms.

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

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The 3 conditions we analyse

Hereditary Fructose Intolerance

Autosomal recessive

Caused by variants in ALDOB; eating fructose, sucrose or sorbitol can cause low blood sugar, vomiting and liver and kidney damage.

What a diagnosis changes

Knowing allows strict avoidance of fructose, sucrose and sorbitol, including in medicines and intravenous fluids, which prevents harm.

Genes analysed

Also known as

Fructosaemia; fructose intolerance; fructose-1,6-bisphosphate aldolase B deficiency; fructosemia; hereditary fructose intolerance syndrome; hereditary fructose-1-phosphate aldolase deficiency; hereditary fructosemia

MONDO:0009249OMIM 229600Orphanet 469MedGen 42105

Fructose-1,6-Bisphosphatase Deficiency

Autosomal recessive

Caused by variants in FBP1, which can cause episodes of low blood sugar and lactic acidosis during fasting or illness.

What a diagnosis changes

Knowing allows avoidance of fasting and fructose and early glucose treatment during illness.

Genes analysed

Also known as

baker-Winegrad disease; FBP1D; fructose 1,6 diphosphatase deficiency

MONDO:0009251OMIM 229700Orphanet 348MedGen 42106

Cytosolic Phosphoenolpyruvate Carboxykinase Deficiency

Autosomal recessive

Caused by variants in PCK1, which can cause episodes of low blood sugar, often during illness or fasting.

What a diagnosis changes

Knowing allows avoidance of prolonged fasting and prompt treatment of low blood sugar.

Genes analysed

Also known as

PCKDC; PEP carboxykinase deficiency; PEPCK 1 deficiency; phosphoenolpyruvate carboxykinase deficiency; phosphoenolpyruvate carboxykinase-1 (PCK1) deficiency; phosphoenolpyruvate carboxylase deficiency; phosphopyruvate carboxylase deficiency

MONDO:0009866OMIM 261680Orphanet 79316MedGen 1801754

Other metabolic conditions

All conditions →

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