Table 4.

Hereditary Disorders to Consider in the Evaluation of Hepatic Insufficiency, Unexplained Jaundice, and Hypoglycemia, or in the Setting of Reye-Like Illness in Infancy or Early Childhood

GeneDisorderMOI
ACADM
ACADVL
HADHA 		Fatty acid oxidation disorders (e.g., MCAD deficiency, LCHAD deficiency, VLCAD deficiency)AR
AGL
G6PC1
GBE1
PHKA1
PHKA2
PHKB
PHKG2
PYGL
SLC37A4 		Hepatic glycogenosis: GSD Ia & Ib, GSD III, GSD IV, GSD VI, GSD IX (See Phosphorylase Kinase Deficiency.)AR
XL
ALG6
MPI
PMM2
(42 genes) 1		Congenital disorders of glycosylation (See Congenital Disorders of N-Linked Glycosylation & Multiple Pathway Overview & footnote 1.)AR
ARG1
ASL
ASS1
CPS1
NAGS
OTC
SLC25A13
SLC25A15 		Urea cycle disorders XL
AR
ATP7B Wilson disease AR
BCKDHA
BCKDHB
DBT 		Maple syrup urine disease AR
DGUOK
MPV17
POLG
TWNK 		Hepatocerebral mtDNA depletion syndromes (e.g., DGUOK-, MPV17-, POLG-, & TWNK-related disorders)AR
FAH Tyrosinemia type 1 AR
PCCA
PCCB 		Organic
acidemias, e.g.,		 Propionic acidemia AR
MCEE
MMAA
MMAB
MMADHC
MMUT 		Isolated methylmalonic acidemia
FBP1 Fructose-1,6-bisphosphatase deficiency
GALT Galactosemia (See Classic Galactosemia & Clinical Variant Galactosemia.)AR
SERPINA1 Alpha-1 antitrypsin deficiency AR
TALDO1 Transaldolase deficiency (OMIM 606003)AR

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

1.

Forty-two different enzymes in the N-linked oligosaccharide synthetic pathway or interactive pathways are currently recognized to be deficient in each of the types of CDG-N-linked or among the multiple-pathway disorders.

From: Hereditary Fructose Intolerance

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