L-Xylulose reductase
DCXR Uronic Acid Pathway
Benign; incidental urinary reducing substance
Metabolic disorders
Inborn errors and acquired disorders mapped to the pathway and enzyme they affect.
Lipoprotein lipase or apoC-II
LPL / APOC2 Lipoprotein Metabolism (Exoge…
Eruptive xanthomas, lipaemia retinalis, recurrent pancreatitis; creamy supernatant
Fructose-1,6-bisphosphatase
FBP1 Gluconeogenesis
Fasting hypoglycaemia with lactic acidosis and ketosis, hyperventilation
Galactokinase
GALK1 Galactose Metabolism
Isolated cataracts, no hepatic or CNS disease
Glucocerebrosidase
Hepatosplenomegaly, pancytopenia, bone crises, Gaucher (crumpled-tissue-paper) cells
Aldolase B
Vomiting, hypoglycaemia, jaundice, cirrhosis after fructose/sucrose; aversion to sweets
UMP synthase (OPRT + OMP decarboxylase)
UMPS
Megaloblastic anaemia NOT responsive to B12 or folate, failure to thrive; NO hyperammonaemia (unlike OTC deficiency)
Cystathionine beta-synthase
CBS
Marfanoid habitus, DOWNWARD lens dislocation, thrombosis, intellectual disability, osteoporosis
Galactocerebrosidase
Optic atrophy, peripheral neuropathy, globoid cells, developmental regression
Branched-chain alpha-ketoacid dehydrogenase
BCKDHA/B, DBT
Burnt-sugar/maple urine odour, poor feeding, ketoacidosis, encephalopathy
Medium-chain acyl-CoA dehydrogenase
Hypoketotic hypoglycaemia on fasting, vomiting, coma, SIDS-like death
Myophosphorylase
Exercise intolerance, cramps, myoglobinuria, second-wind phenomenon; normal blood glucose
Arylsulfatase A
Central and peripheral demyelination, ataxia, dementia
Methylmalonyl-CoA mutase (or cobalamin handling)
MMUT / MMAA / MMAB
Ketoacidosis, hyperammonaemia, failure to thrive
Acid sphingomyelinase
Hepatosplenomegaly, cherry-red macula, neurodegeneration (type A), foam cells