Klinische FragestellungKohlenhydrat-Stoffwechsel-Störungen, Differentialdiagnose

NGS +

[Sanger]

Bei den Kohlenhydrat-Stoffwechsel-Störungen handelt es sich um eine sehr heterogene Gruppe an erblichen Stoffwechselerkrankungen.

Sie beeinflussen den Katabolismus und Anabolismus von Kohlenhydraten. Meist liegt den Störungen die Unfähigkeit, Metaboliten der Kohlenhydrate effektiv zu nutzen, zugrunde. In einigen Fällen kann auch die Akkumulation eines toxischen Stoffwechselprodukts ursächlich sein.

Typische Kohlenhydrat-Stoffwechsel-Störungen sind die Galaktosämie, die Fucosidose, die Aspartylglukosaminurie oder die Fruktoseintoleranz.

In diesem Panel werden Gene gemäß der klinischen Verdachtsdiagnose untersucht.

Eine unauffällige genetische Diagnostik schließt eine genetische Ursache der Symptomatik grundsätzlich nie vollständig aus.

(Quelle: https://www.orpha.net/de/disease/detail/79161?search=Kohlenhydrat-Stoffwechselstorung&mode=name;https://academic.oup.com/book/37215/chapter-abstract/327552954?redirectedFrom=fulltext)

• Alias: Oligosaccharidoses
• Allelic: Agammaglobulinemia 7, (AR (PIK3R1)
• Allelic: Aniridia (PAX6)
• Allelic: Anterior segment dysgenesis 5, multiple subtypes (PAX6)
• Allelic: Atrial septal defect 2 (GATA4)
• Allelic: Atrial septal defect 9 (GATA6)
• Allelic: Atrioventricular septal defect 4 (GATA4)
• Allelic: Atrioventricular septal defect 5 (GATA6)
• Allelic: Autoimmune disease, multisystem, infantile-onset, 1 (STAT3)
• Allelic: Cardiomyopathy, dilated, 1A (LMNA)
• Allelic: Carotid intimal medial thickness 1 (PPARG)
• Allelic: Cataract 41 (WFS1)
• Allelic: Cataract with late-onset corneal dystrophy (PAX6)
• Allelic: Charcot-Marie-Tooth disease, axonal, type 2V (NAGLU)
• Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
• Allelic: Coloboma of optic nerve (PAX6)
• Allelic: Coloboma, ocular (PAX6)
• Allelic: Colorectal cancer, susceptibility to, 1 (POLD1)
• Allelic: Deafness, AD 6/14/38 (WFS1)
• Allelic: Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
• Allelic: Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
• Allelic: Foveal hypoplasia 1 (PAX6)
• Allelic: Heart-hand syndrome, Slovenian type (LMNA)
• Allelic: Hyper-IgE recurrent infection syndrome (STAT3)
• Allelic: Immunodeficiency 36 (PIK3R1)
• Allelic: Keratitis (PAX6)
• Allelic: Mandibuloacral dysplasia (LMNA)
• Allelic: Morning glory disc anomaly (PAX6)
• Allelic: Muscular dystrophy, congenital (LMNA)
• Allelic: Optic nerve hypoplasia (PAX6)
• Allelic: Persistent truncus arteriosus (GATA6)
• Allelic: Renal cell carcinoma (HNF1A, HNF1B)
• Allelic: Restrictive dermopathy, lethal (LMNA)
• Allelic: Restrictive dermopathy, lethal (ZMPSTE24)
• Allelic: Retinitis pigmentosa 73 (HGSNAT)
• Allelic: Testicular anomalies withwithout congenital heart disease (GATA4)
• Allelic: Tetralogy of Fallot (GATA4, GATA6)
• Allelic: Ventricular septal defect 1 (GATA4)
• Abdominal obesity-metabolic syndrome (DYRK1B)
• Aspartylglucosaminuria (AGA)
• Ataxia, combined cerebellar + peripheral, with hearing loss + diabetes mellitus (DNAJC3)
• Congenital disorder of glycosylation, type IIw (SLC37A4)
• Congenital disorder of glycosylation, type It (PGM1)
• Currarino syndrome (MNX1)
• D-glyceric aciduria (GLYCTK)
• Danon disease (LAMP2)
• Diabetes [panelapp] (PAX6)
• Diabetes mellitus, insulin-dependent (HNF1A)
• Diabetes mellitus, insulin-dependent, 2 (INS)
• Diabetes mellitus, insulin-dependent, 20 (HNF1A)
• Diabetes mellitus, insulin-resistant + acanthosis nigricans (INSR)
• Diabetes mellitus, neonatal, with congenital hypothyroidism (GLIS3)
• Diabetes mellitus, noninsulin-dependent (ABCC8)
• Diabetes mellitus, noninsulin-dependent (HNF4A)
• Diabetes mellitus, noninsulin-dependent (SLC2A2)
• Diabetes mellitus, noninsulin-dependent, 2 (HNF1A)
• Diabetes mellitus, noninsulin-dependent, association with (WFS1)
• Diabetes mellitus, noninsulin-dependent, late onset (GCK)
• Diabetes mellitus, permanent neonatal 1 (GCK)
• Diabetes mellitus, permanent neonatal 3, +/- neurologic features (ABCC8)
• Diabetes mellitus, permanent neonatal 4 (INS)
• Diabetes mellitus, transient neonatal 1 (ZFP57)
• Diabetes mellitus, transient neonatal 2 (ABCC8)
• Diabetes mellitus, transient neonatal 3 (KCNJ11)
• Diabetes mellitus, type 2, susceptibility to (KCNJ11)
• Diabetes mellitus, type II (AKT2)
• Diabetes mellitus, type II, susceptibility to (PDX1)
• Diabetes, mellitus, insulin-dependent, susceptibility to, 10 (IL2RA)
• Diabetes, permanent neonatal 2, with or without neurologic features (KCNJ11)
• Diabetes, type 2 (PPARG)
• Diarrhea 4, malabsorptive, congenital (NEUROG3)
• Dystonia 9 (SLC2A1)
• Encephalopathy, progressive, +/- lipodystrophy (BSCL2)
• Epilepsy, idiopathic generalized, susceptibility to, 12 (SLC2A1)
• Erythrocyte lactate transporter defect (SLC16A1)
• Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young (HNF4A)
• Fanconi-Bickel syndrome (SLC2A2)
• Fructose intolerance, hereditary (ALDOB)
• Fructose-1,6-bisphosphatase deficiency (FBP1)
• Fructosuria (KHK)
• Fucosidosis (FUCA1)
• GLUT1 deficiency syndrome 1, infantile onset, severe (SLC2A1)
• GLUT1 deficiency syndrome 2, childhood onset (SLC2A1)
• GM1-gangliosidosis, type I (GLB1)
• GM1-gangliosidosis, type II (GLB1)
• GM1-gangliosidosis, type III (GLB1)
• Galactokinase deficiency with cataracts (GALK)
• Galactose epimerase deficiency (GALE)
• Galactosemia (GALT)
• Galactosialidosis (CTSA)
• Glucose/galactose malabsorption (SLC5A1)
• Glycerol kinase deficiency (GK)
• Glycogen storage disease 0, liver (GYS2)
• Glycogen storage disease 0, muscle (GYS1)
• Glycogen storage disease II (GAA)
• Glycogen storage disease IIIa (AGL)
• Glycogen storage disease IIIb (AGL)
• Glycogen storage disease IV (GBE1)
• Glycogen storage disease IXc (PHKG2)
• Glycogen storage disease Ia (G6PC1)
• Glycogen storage disease Ib (SLC37A4)
• Glycogen storage disease Ic (SLC37A4)
• Glycogen storage disease VI (PYGL)
• Glycogen storage disease VII (PFKM)
• Glycogen storage disease X (PGAM2)
• Glycogen storage disease XI (LDHA)
• Glycogen storage disease XII (ALDOA)
• Glycogen storage disease XIII (ENO3)
• Glycogen storage disease XV (GYG1)
• Glycogen storage disease, type IXa1 (PHKA2)
• Glycogen storage disease, type IXa2 (PHKA2)
• Hemolytic anemia due to triosephosphate isomerase deficiency (TPI1)
• Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency (GPI)
• Histiocytosis-lymphadenopathy plus syndrome (SLC29A3)
• Hutchinson-Gilford progeria (LMNA)
• Hyperammonemia due to carbonic anhydrase VA deficiency (CA5A)
• Hyperinsulinemic hypoglycemia, familial, 1 (ABCC8)
• Hyperinsulinemic hypoglycemia, familial, 2 (KCNJ11)
• Hyperinsulinemic hypoglycemia, familial, 3 (GCK)
• Hyperinsulinemic hypoglycemia, familial, 5 (INSR)
• Hyperinsulinemic hypoglycemia, familial, 7 (SLC16A1)
• Hyperoxaluria, primary, type 1 (AGXT)
• Hyperoxaluria, primary, type II (GRHPR)
• Hyperoxaluria, primary, type III (HOGA1)
• Hyperphenylalaninemia, BH4-deficient, D (PCBD1)
• Hyperproinsulinemia (INS)
• Hypoglycemia of infancy, leucine-sensitive (ABCC8)
• Hypoinsulinemic hypoglycemia with hemihypertrophy (AKT2)
• Immunodeficiency 41 with lymphoproliferation + autoimmunity (IL2RA)
• Immunodeficiency, common variable, 8, with autoimmunity (LRBA)
• Immunodysregulation, polyendocrinopathy + enteropathy, XL (FOXP3)
• Insulin resistance, severe, digenic (PPARG)
• Kanzaki disease (NAGA)
• Lactase deficiency, congenital (LCT)
• Lactase persistence + nonpersistence (MCM6)
• Leprechaunism (INSR)
• Lipodystrophy, congenital generalized, type 1 (AGPAT2)
• Lipodystrophy, congenital generalized, type 2 (BSCL2)
• Lipodystrophy, familial partial, type 2 (LMNA)
• Lipodystrophy, familial partial, type 3 (PPARG)
• Lipodystrophy, familial partial, type 4 (PLIN1)
• MEHMO [ment. ret., epilepsy, hypogonad./-genital., microceph., obesity] syndrome (EIF2S3)
• MODY, type I (HNF4A)
• MODY, type II (GCK)
• MODY, type III (HNF1A)
• MODY, type IV (PDX1)
• Malouf syndrome (LMNA)
• Mandibular hypoplasia, deafness, progeroid features, lipodystrophy syndrome (POLD1)
• Mandibuloacral dysplasia with type B lipodystrophy (ZMPSTE24)
• Mannosidosis, alpha-, types I + II (MAN2B1)
• Mannosidosis, beta (MANBA)
• Maturity-onset diabetes of the young 6 (NEUROD1)
• Maturity-onset diabetes of the young, type 10 (INS)
• Maturity-onset diabetes of the young, type 13 (KCNJ11)
• Maturity-onset diabetes of the young, type 14 (APPL1)
• Maturity-onset diabetes of the young, type VIII (CEL)
• McArdle disease (PYGM)
• Microcephaly, epilepsy + diabetes syndrome (IER3IP1)
• Microcephaly, short stature + impaired glucose metabolism 1 (TRMT10A)
• Microcephaly, short stature + impaired glucose metabolism 2 (PPP1R15B)
• Mitchell-Riley syndrome (RFX6)
• Monocarboxylate transporter 1 deficiency (SLC16A1)
• Mucopolysaccharidosis II (IDS)
• Mucopolysaccharidosis IVA (GALNS)
• Mucopolysaccharidosis Ih (IDUA)
• Mucopolysaccharidosis Ih/s (IDUA)
• Mucopolysaccharidosis Is (IDUA)
• Mucopolysaccharidosis type IIIA, Sanfilippo A (SHSH)
• Mucopolysaccharidosis type IIIB (Sanfilippo B (NAGLU)
• Mucopolysaccharidosis type IIIC, Sanfilippo C (HGSNAT)
• Mucopolysaccharidosis type IIID (GNS)
• Mucopolysaccharidosis type IVB, Morquio (GLB1)
• Mucopolysaccharidosis type VI, Maroteaux-Lamy (ARSB)
• Muscle glycogenosis (PHKA1)
• Neonatal diabetes + additional multi-organ autoimmunity [panelapp] (STAT3)
• Neonatal diabetes mellitus [MONDO:0016391] (NKX2-2)
• Neonatal diabetes, pancreatic agenesis and/or congenital heart defects [panelapp] (GATA4)
• Neuropathy, distal hereditary motor, type VC (BSCL2)
• Obesity, resistance to (PPARG)
• Obesity, severe (PPARG)
• Pancreatic + cerebellar agenesis (PTF1A)
• Pancreatic agenesis + congenital heart defects (GATA6)
• Pancreatic agenesis 1 (PDX1)
• Pancreatic agenesis 2 (PTF1A)
• Pentosuria (DCXR)
• Phosphoenolpyruvate carboxykinase deficiency, cytosolic (PCK1)
• Phosphoglycerate kinase 1 deficiency (PGK1)
• Phosphorylase kinase deficiency of liver + muscle, AR (PHKB)
• Polyglucosan body disease, adult form (GBE1)
• Polyglucosan body myopathy 1 with/-out immunodeficiency (RBCK1)
• Polyglucosan body myopathy 2 (GYG1)
• Primrose syndrome (ZBTB20)
• Pyruvate carboxylase deficiency (PC)
• Rabson-Mendenhall syndrome (NSR)
• Renal cysts + diabetes syndrome (HNF1B)
• Renal glucosuria (SLC5A2)
• Ribose 5-phosphate isomerase deficiency (RPIA)
• SHORT syndrome [partial lipodystrophy, Rieger anomaly + short stature] (PIK3R1)
• Schindler disease, type I + III (NAGA)
• Sialidosis, type I + II (NEU1)
• Silver spastic paraplegia syndrome (BSCL2)
• Stomatin-deficient cryohydrocytosis with neurologic defects (SLC2A1)
• Sucrase-isomaltase deficiency, congenital (SI)
• Syndromic neonatal diabetes, sev. developm. delay, hypotonia, cort. blindness, hearing loss (NKX2-2)
• Thiamine-responsive megaloblastic anemia syndrome (SLC19A2)
• Transaldolase deficiency (TALDO1)
• Trehalase deficiency (TREH)
• Type 2 diabetes mellitus (HNF1B)
• Type 2 diabetes mellitus, susceptibility to (NEUROD1)
• Wolcott-Rallison syndrome (EIF2AK3)
• Wolfram syndrome 1 (WFS1)
• Wolfram syndrome 2 (CISD2)
• Wolfram-like syndrome, AD (WFS1)
• Woodhouse-Sakati syndrome (DCAF17)