Genes Evaluated
ABCD1, AGL, ASS1, ATP7B, BCKDHA, BCKDHB, CLCNKB, DY SF, FAH, FXN, GALT, GLA, HEXA, LAMA2, LAMP2, MT-ND5, OTC, PAH, PCCA, PCCB, RAl1, ABCC8, BLK, EIF2AK3, FOXP3, GATA6, GCK, GLIS3, GLUD1, HADH, HNF1A, HNF1B, HNF4A, INS, INSR, KCNJ11, KLF11, NEUROD1, NEUROG3, PAX4, PDX1, PPARG, PTF1A, RFX6, SLC16A1, SLC2A2, WFS1, ZFP57.
Comprehensive Approach
These genes cover a wide range of metabolic disorders, including but not limited to amino acid metabolism disorders (e.g., PKU, Tyrosinemia), organic acidurias (e.g., Propionic Acidemia), carbohydrate metabolism disorders (e.g., Galactosemia), mitochondrial disorders, fatty acid oxidation disorders, lysosomal storage disorders (e.g., Fabry Disease, Tay-Sachs Disease), urea cycle disorders (e.g., OTC Deficiency), and various forms of diabetes (e.g., MODY, Neonatal Diabetes).
The identification of mutations in these genes can guide targeted treatments, dietary interventions, enzyme replacement therapies, and other specific management strategies to mitigate the effects of these metabolic conditions.
Gene Associations and Corresponding Metabolic Disorders:
- ABCD1: Adrenoleukodystrophy.
- AGL: Glycogen Storage Disease Type Ill.
- ASS1: Citrullinemia Type I.
- ATP7B: Wilson Disease.
- BCKDHA, BCKDHB: Maple Syrup Urine Disease.
- CLCNKB: Bartter Syndrome Type Ill.
- DYSF: Dysferlinopathy, including Miyoshi Myopathy and Limb-Girdle Muscular Dystrophy.
- FAH: Tyrosinemia Type I.
- FXN: Friedreich's Ataxia.
- GALT: Galactosemia.
- GLA: Fabry Disease.
- HEXA: Tay-Sachs Disease.
- LAMA2: LAMA2-Related Muscular Dystrophy.
- LAMP2: Danon Disease.
- MT-NDS: Mitochondrial Disorders, including Mitochondrial Complex I Deficiency.
- OTC: Ornithine Transcarbamylase Deficiency.
- PAH: Phenylketonuria (PKU).
- PCCA, PCCB: Propionic Acidemia.
- RAl1: Smith-Magenis Syndrome.
- ABCC8, KCNJ11: Congenital Hyperinsulinism, Neonatal Diabetes Mellitus.
- BLK: Maturity-Onset Diabetes of the Young (MODY).
- EIF2AK3: Wolcott-Rallison Syndrome.
- FOXP3: IPEX Syndrome (Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked).
- GATA6: Diabetes and Pancreatic Agenesis.
- GCK: MODY2 (GCK-MODY).
- GLIS3: Neonatal Diabetes and Congenital Hypothyroidism.
- GLUD1: Hyperinsulinism-Hyperammonemia Syndrome.
- HADH: Hyperinsulinism due to HADH Deficiency.
- HNF1 A: MODY3.
- HNF1 B: Renal Cysts and Diabetes Syndrome (RCAD), MODYS.
- HNF4A: MODY1.
- INS: Permanent Neonatal Diabetes Mellitus.
- INSR: Insulin Resistance Syndromes.
- KLF11: MODY?.
- NEUROD1: MODY6.
- NEUROG3: Permanent Neonatal Diabetes Mellitus, Congenital Malabsorptive Diarrhea.
- PAX4: MODY9.
- PDX1: Pancreatic Agenesis, MODY4.
- PPARG: Familial Partial Lipodystrophy, MODY8.
- PTF1A: Pancreatic and Endocrine Dysfunction.
- RFX6: Mitchell-Riley Syndrome.
- SLC16A1: Exercise-Induced Hyperinsulinism.
- SLC2A2: Fanconi-Bickel Syndrome.
- WFS1: Wolfram Syndrome, Non-Syndromic Low-Frequency Sensorineural Hearing Loss.
- ZFP57: Transient Neonatal Diabetes Mellitus.