ABGC Metabolics Conditions 2026

Malignant Hyperthermia : Category

Pharmacogenetic

Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD) : Category

Fatty Acid Oxidation

Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) : Category

Fatty Acid Oxidation

Adrenoleukodystrophy : Category

Peroxisomal

Tyrosinemia Type 1 : Category

Amino Acid

Glutaric Acidemia Type 1 : Category

Organic Acid

Maple Syrup Urine Disease (MSUD) : Category

Amino Acid

Ornithine Transcarbamylase Deficiency (OTC) : Category

Urea Cycle

Phenylketonuria (PKU) : Category

Amino Acid

Galactosemia : Category

Carbohydrate

Glycogen Storage Disease Type 1 (GSD1; Von Gierke) : Category

Carbohydrate

Glycogen Storage Disease Type 2 (GSD2; Pompe) : Category

Lysosomal Storage Disease (LSD)

Glycogen Storage Disease Type 3 (GSD3; Cori/Forbes) : Category

Carbohydrate

Fabry Disease : Category

Lysosomal Storage Disease (LSD)

Gaucher Disease : Category

Lysosomal Storage Disease (LSD)

Krabbe Disease : Category

Lysosomal Storage Disease (LSD)

Tay-Sachs Disease : Category

Lysosomal Storage Disease (LSD)

Mucopolysaccharidoses Type 1 (MPS1, Hurler) : Category

Lysosomal Storage Disease (LSD)

Mucopolysaccharidoses Type 2 (MPS2; Hunter) : Category

Lysosomal Storage Disease (LSD)

Mucopolysaccharidoses Type 3 (MPS3, Sanfilippo) : Category

Lysosomal Storage Disease (LSD)

Mucopolysaccharidoses Type IVA (MPS IVA, Morquio) : Category

Lysosomal Storage Disease (LSD)

Smith-Lemli-Optiz Syndrome : Category

Lipid

Amino Acid Disorders : 3 Key Features

Odors, CNS involvement, High Plasma Amino Acids

Carbohydrate Disorders : 3 Key Features

Long Fast Intolerance, High Lactate w/ Hypoglycemia/Metabolic Acidosis, Liver Involvement (Hepatomegaly/Jaundice)

Fatty Acid Oxidation Disorders : 3 Key Features

Short Fast Intolerance, Hypoglycemia/Low Carnitine/High Acylcarnitine/Low Ketones, Hepatomegaly

Lysosomal Storage Disorders : 3 Key Features

Enzyme Deficiency, Heart Involvement, Organomegaly

Organic Acidurias : 3 Key Features

High Urine Organic Acids, Hyperammonemia w/ Metabolic Acidosis/Hypoglycemia, CNS Involvement

Peroxisomal Disorders : 3 Key Features

High Very-Long-Chain Fatty Acids (VLCFA), Neuromuscular Involvement, Sensory Involvement

Urea Cycle Disorders : 3 Key Features

Tachypnea, Respiratory Alkalosis/Hyperammonemia, Low Blood Urea Nitrogen

Amino Acid Disorders : General Treatment

Special Formula, Low Protein Diet, Alternate Pathway Therapies

Carbohydrate Disorders : General Treatment

Regulated Feeding Intervals, Protein-Rich Diet

Fatty Acid Oxidation Disorders : General Treatment

Carnitine Supplementation, Avoid Fasting/Catabolism, Low Fat Diet, Insulin

Lysosomal Storage Disorders : General Treatment

Enzyme Replacement Therapy

Organic Acidurias : General Treatment

Stop Protein Intake, Avoid Fasting/Catabolism, Carnitine Supplementation, Dialysis/Liver Transplant

Peroxisomal Disorders : General Treatment

Symptomatic Management

Urea Cycle Disorders : General Treatment

Special Formula, Avoid Fasting/Catabolism, Alternate Pathway Therapies, Dialysis/Liver Transplant

Malignant Hyperthermia : Gene and Inheritance

AD; 3 Genes: RYR1, CACNA1S, STAC3

Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD) : Gene and Inheritance

AR; ACADVL

Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) : Gene and Inheritance

AR; ACADM

Adrenoleukodystrophy : Gene and Inheritance

XL; ABCD1

Tyrosinemia Type 1 : Gene and Inheritance

AR; FAH

Glutaric Acidemia Type 1 : Gene and Inheritance

AR; GCDH

Maple Syrup Urine Disease (MSUD) : Gene and Inheritance

AR; 4 genes: BCKDHA, BCKDHB, DBT, DLD

Ornithine Transcarbamylase Deficiency (OTC) : Gene and Inheritance

XL; OTC

Phenylketonuria (PKU) : Gene and Inheritance

AR; PAH

Galactosemia : Gene and Inheritance

AR; GALT

Glycogen Storage Disease Type 1 (GSD1; Von Gierke) : Gene and Inheritance

AR; 2 genes, 2 Variants : 1A: G6PC1, 1B: SLC37A4

Glycogen Storage Disease Type 2 (GSD2; Pompe) : Gene and Inheritance

AR; GAA

Glycogen Storage Disease Type 3 (GSD3; Cori) : Gene and Inheritance

AR; AGL

Fabry Disease : Gene and Inheritance

XL; GLA

Gaucher Disease : Gene and Inheritance

AR; GBA

Krabbe Disease : Gene and Inheritance

AR; GALC

Tay-Sachs Disease : Gene and Inheritance

AR; HEXA

Mucopolysaccharidoses Type 1 (MPS1, Hurler) : Gene and Inheritance

AR; IDUA

Mucopolysaccharidoses Type 2 (MPS2; Hunter) : Gene and Inheritance

XL; IDS

Mucopolysaccharidoses Type 3 (MPS3, Sanfilippo) : Gene and Inheritance

AR; 4 genes: SGSH, NAGLU, HGSNAT, GNS

Mucopolysaccharidoses Type IVA (MPS IVA, Morquio) : Gene and Inheritance

AR; 2 genes: GALNS, GLB1

Smith-Lemli-Optiz Syndrome : Gene and Inheritance

AR; DHCR7

Malignant Hyperthermia : 3 Key Features

High Fever (>104F), Muscle Rigidity (Jaw), Rapid Heart Rate/Breathing (Tachycardia/Tachypnea) after exposure to general anaesthesia

Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD) : 3 Key Features

Hepatomegaly, Cardiomyopathy, Sudden Death

Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) : 3 Key Features

Hepatomegaly, Vomiting, Sudden Death

Adrenoleukodystrophy : 3 Key Symptoms

Adrenal Insufficiency, Leukodystrophy/Ataxia, Seizures

Tyrosinemia Type 1 : 3 Key Symptoms

Boiled Cabbage Odor, Hepatorenal dysfunction, Porphyria-like Crisis (respiratory failure, abd. pain, neuropathy)

Glutaric Acidemia Type 1 : 3 Key Symptoms

Macrocephaly, Dystonia, FTT

Maple Syrup Urine Disease (MSUD) : 3 Key Symptoms

Maple Syrup Odor in urine and ear wax, CNS Involvement +Seizures, Vomiting

Ornithine Transcarbamylase Deficiency (OTC) : 3 Key Symptoms

CNS Involvement +Seizures, Tachypnea, Vomiting

Phenylketonuria (PKU) : 3 Key Symptoms

Mousy Odor, CNS Involvement +Seizures, Hypopigmentation

Galactosemia : 3 Key Symptoms

3 variants in Increasing GALT Enzyme Activity Order: Classic (Cataracts, Liver Disease, POI in females); Variant (Cataracts, Liver Disease, Highly Variable), and Duarte (Asymptomatic)

Glycogen Storage Disease Type 1 (GSD1; Von Gierke) : 3 Key Symptoms

2 variants: 1A (Hepatomegaly, Doll Facies, Short Stature); 1B (+Neutropenia)

Glycogen Storage Disease Type 2 (GSD2; Pompe) : 3 Key Symptoms

Myopathy (progressive muscle weakness + stiffness), Hepatomegaly, Cardiomyopathy

Glycogen Storage Disease Type 3 (GSD3; Cori/Forbes) : 3 Key Symptoms

2 Variants : A: (Liver and Muscle) Hepatomegaly, Myopathy, Cardiomyopathy; B: (Liver Only)

Fabry Disease : 3 Key Symptoms

Corneal Whorl/Eye Opacities, Hypohydrosis, Acroparesthesia (extremity pain)

Gaucher Disease : 3 Key Symptoms

5 Variants : 1: Hepatosplenomegaly, Anemia, Bone Involvement; 2: CNS Involvement +Seizures, Hepatosplenomegaly, Anemia; 3: CNS Involvement +Seizures, Hepatosplenomegaly, Bone Involvement; Perinatal Lethal: Hydrops Fetalis, Ichthyosiform Skin, Corneal Opacities; Cardiovascular: Mitral/Aortic Valve Stenosis, Corneal Opacities, Oculomotor Ataxia

Krabbe Disease : 3 Key Symptoms

CNS Involvement +Seizures, Constant Crying (Krabby), Tightly Fisted Hands

Tay-Sachs Disease : 3 Key Symptoms

CNS Involvement +Seizures, Cherry Red Spot in Eye, Extreme Startle Response

Mucopolysaccharidoses Type 1 (MPS1, Hurler) : 3 Key Symptoms

Coarse Facial Features, Short Stature w/ Dysostosis Multiplex (oar ribs), Inguinal/Umbilical Hernia

Mucopolysaccharidoses Type 2 (MPS2; Hunter) : 3 Key Symptoms

Coarse Facial Features, Short Stature w/ Dysostosis Multiplex (oar ribs), Inguinal/Umbilical Hernia

Mucopolysaccharidoses Type 3 (MPS3, Sanfilippo) : 3 Key Symptoms

Coarse Facial Features, CNS Involvement +Seizures, Inguinal/Umbilical Hernia, NORMAL STATURE

Mucopolysaccharidoses Type IVA (MPS IVA, Morquio) : 3 Key Symptoms

Coarse Facial Features, Short Stature w/ Dysostosis Multiplex (oar ribs), Inguinal/Umbilical Hernia, NORMAL IQ

Smith-Lemli-Optiz Syndrome : 5 Key Symptoms

CNS Involvement +Seizures +Self-Injury, Distinct Facies +Cleft Palate, Postaxial Polydactyly and 2-3 Syndactyly, All Over Malformations, Photosensitivity

Malignant Hyperthermia : Biochemical Hallmark

Blood Gas with low pH, High CO2 (respiratory acidosis) and high lactic acid (metabolic acidosis), elevated CK from rhabdomyolysis (muscle breakdown), and high potassium from damaged muscle cells, all after presence of succinylcholine (anaesthetic)

Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD) : Biochemical Hallmark

Elevated serum C14:1, hypoglycemia

Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) : Biochemical Hallmark

Elevated serum C8 (Medi-EIGHT), lesser elevation of C6 and C10, hypoglycemia

Adrenoleukodystrophy : Biochemical Hallmark

Elevated serum VLCFAs

Tyrosinemia Type 1 : Biochemical Hallmark

Elevated serum tyrosine, phenylalanine, succinylacetone (Ty-Phen-Succ)

Glutaric Acidemia Type 1 : Biochemical Hallmark

Elevated serum C5-DC, 3-hydroxyglutaric acid in urine

Maple Syrup Urine Disease (MSUD) : Biochemical Hallmark

Elevated serum leucine, isoleucine, valine, alloleucine (branched chain AAs) (VAIL)

Ornithine Transcarbamylase Deficiency (OTC) : Biochemical Hallmark

Low serum citrulline/arginine, hyperammonemia, elevated orotic acid

Phenylketonuria (PKU) : Biochemical Hallmark

Elevated serum phenylalanine, low tyrosine

Galactosemia : Biochemical Hallmark

Galt Enzyme Activity : Classic:

Glycogen Storage Disease Type 1 (GSD1; Von Gierke) : Biochemical Hallmark

1A: Lactic acidosis, hypoglycemia, elevated plasma uric acid; 1B: +low neutrophil count on CBC

Glycogen Storage Disease Type 2 (GSD2; Pompe) : Biochemical Hallmark

Glycogen Storage Disease Type 3 (GSD3; Cori/Forbes) : Biochemical Hallmark

Lactic acidosis, hypoglycemia, elevated plasma CK and elevated plasma and urine ketones (KETOSIS)

Fabry Disease : Biochemical Hallmark

Deficient alpha-galactosidase (GLA) enzyme activity

Gaucher Disease : Biochemical Hallmark

Deficient beta-glucocerebrosidase (GBA) enzyme activity

Krabbe Disease : Biochemical Hallmark

Deficient galactocerebrosidase (GALC) enzyme activity, elevated serum psychosine

Tay-Sachs Disease : Biochemical Hallmark

Deficient beta-hexosaminidase A (HEXA) enzyme activity

Mucopolysaccharidoses Type 1 (MPS1, Hurler) : Biochemical Hallmark

Deficient alpha-iduronidase (IDUA) enzyme activity, elevated urine GAGs

Mucopolysaccharidoses Type 2 (MPS2; Hunter) : Biochemical Hallmark

Deficient iduronate sulfatase (IDS) enzyme activity, elevated urine GAGs

Mucopolysaccharidoses Type 3 (MPS3, Sanfilippo) : Biochemical Hallmark

Deficient enzyme activity (too many), elevated urine GAGs