Table 5.

Hereditary Disorders to Consider in the Evaluation of Infants with Hyperlacticemia in Combination with Hypoglycemia

GeneDisorderMOI
ACADM
ACADVL
HADHA 		Fatty acid oxidation disorders (e.g., MCAD deficiency, LCHAD deficiency, VLCAD deficiency)AR
FBP1 Disorders of
gluconeogenesis,
e.g.,		 Fructose-1,6-bisphosphatase deficiency AR
DLAT
DLD
PDHB
PDHX
PDP1 		Primary pyruvate dehydrogenase complex deficiency AR
PDHA1
PDK3 		XL
PCCA
PCCB 		Organic
acidemias, e.g.,		 Propionic acidemia AR
MCEE
MMAA
MMAB
MMADHC
MMUT 		Isolated methylmalonic acidemia
FBP1 Fructose-1,6-bisphosphatase deficiency
GYS2 Glycogenosis (e.g., hepatic glycogen synthase deficiency [GSD 0; OMIM 240600])AR
HMGCL Disorders of ketone metabolism (e.g., HMG-CoA-lyase deficiency [OMIM 246450])AR

AR = autosomal recessive; LCHAD = long-chain 3-hydroxyacyl-coa dehydrogenase; MCAD = medium-chain acyl-coenzyme A dehydrogenase; MOI = mode of inheritance; VLCAD = very long-chain acyl-CoA dehydrogenase; XL = X-linked

From: Hereditary Fructose Intolerance

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