# The kidney in genetic metabolic disorders **Authors:** Ulla T. Schultheiss, Anke Schumann PMC · DOI: 10.1515/medgen-2025-2044 · Medizinische Genetik · 2026-02-18 ## TL;DR This paper discusses how genetic metabolic disorders affect the kidneys and highlights the importance of early diagnosis and personalized treatment for better outcomes. ## Contribution The paper emphasizes the role of combined genetic and metabolic testing in managing kidney diseases caused by genetic metabolic disorders. ## Key findings - Genetic testing and metabolic profiling aid in early diagnosis of kidney diseases. - Personalized management strategies can include enzyme replacement and dietary changes. - Advances in gene therapy and precision medicine offer improved treatment possibilities. ## Abstract Genetic metabolic kidney diseases arise from (likely) pathogenic variants affecting kidney metabolism, causing progressive kidney dysfunction. Symptoms include but are not restricted to nephrolithiasis, proteinuria, kidney failure, and extrarenal manifestations. Genetic testing in combination with metabolic profiling aids early diagnosis and personalized management strategies, which may include enzyme replacement, dietary changes, and kidney-related therapies. Advances in gene therapy and precision medicine offer hope for better outcomes. Early diagnosis and intervention are key to improving prognosis and quality of life, emphasizing the importance of advancing combined metabolic/genetic testing and treatment approaches. ## Linked entities - **Diseases:** kidney failure (MONDO:0001106), nephrolithiasis (MONDO:0008171), proteinuria (MONDO:0003634) ## Full-text entities - **Genes:** SLC37A4 (solute carrier family 37 member 4) [NCBI Gene 2542] {aka CDG2W, G6PT, G6PT1, G6PT2, G6PT3, GSD1b}, AKR1C1 (aldo-keto reductase family 1 member C1) [NCBI Gene 1645] {aka 2-ALPHA-HSD, 20-ALPHA-HSD, DD1, DD1/DD2, DDH, DDH1}, AKR1C2 (aldo-keto reductase family 1 member C2) [NCBI Gene 1646] {aka AKR1C-pseudo, BABP, DD, DD-2, DD/BABP, DD2}, GCDH (glutaryl-CoA dehydrogenase) [NCBI Gene 2639] {aka ACAD5, GCD}, A4GALT (alpha 1,4-galactosyltransferase (P1PK blood group)) [NCBI Gene 53947] {aka A14GALT, A4GALT1, Gb3S, P(k), P1, P1PK}, CLCN5 (Cl-/H+ antiporter 5) [NCBI Gene 1184] {aka CLC5, CLCK2, ClC-5, DENT1, DENTS, NPHL1}, ALB (albumin) [NCBI Gene 213] {aka FDAHT, HSA, PRO0883, PRO0903, PRO1341}, SLC22A6 (solute carrier family 22 member 6) [NCBI Gene 9356] {aka HOAT1, OAT1, PAHT, ROAT1}, SLC5A2 (solute carrier family 5 member 2) [NCBI Gene 6524] {aka SGLT2}, OCRL (OCRL inositol polyphosphate-5-phosphatase) [NCBI Gene 4952] {aka DENT2, Dent-2, LOCR, OCRL-1, OCRL1}, MMAA (metabolism of cobalamin associated A) [NCBI Gene 166785] {aka cblA}, G6PC1 (glucose-6-phosphatase catalytic subunit 1) [NCBI Gene 2538] {aka G6PC, G6PT, G6Pase, GSD1, GSD1a}, SLC22A7 (solute carrier family 22 member 7) [NCBI Gene 10864] {aka NLT, OAT2, hOAT11}, PCCA (propionyl-CoA carboxylase subunit alpha) [NCBI Gene 5095], MMUT (methylmalonyl-CoA mutase) [NCBI Gene 4594] {aka MCM, MUT}, CST3 (cystatin C) [NCBI Gene 1471] {aka ADLDWA, ARMD11, HEL-S-2}, CRYGD (crystallin gamma D) [NCBI Gene 1421] {aka CACA, CCA3, CCP, CRYG4, CTRCT4, PCC}, GLA (galactosidase alpha) [NCBI Gene 2717] {aka GALA}, PCCB (propionyl-CoA carboxylase subunit beta) [NCBI Gene 5096] - **Diseases:** movement disorders (MESH:D009069), rickets (MESH:D012279), long QT syndrome (MESH:D008133), DD type 2 (MESH:C564487), developmental delay (MESH:D002658), LMWP (MESH:C545036), Lowe syndrome (MESH:D009800), MMA (MESH:C537358), MMA-uria (MESH:C537425), cardiac complications (MESH:D006331), Hypercalciuria (MESH:D053565), DD (MESH:D057973), IEM (MESH:D008661), congenital cataracts (MESH:D002386), OAs (MESH:D000092124), Glomerular disease (MESH:D007674), Kidney stone formation (MESH:D007669), involvement (MESH:C564676), drug toxicity (MESH:D064420), striatal injury (MESH:C537500), proximal and distal tubular acidosis (MESH:D000141), cystinosis (MESH:D003554), XL (MESH:D000080345), GSD 1 (MESH:D006008), HUS (MESH:D006463), MCEE (MESH:C565386), infections (MESH:D007239), failure to thrive (MESH:D005183), intellectual disability (MESH:D008607), left ventricular hypertrophy (MESH:D017379), hypertension (MESH:D006973), hepatic adenoma (MESH:C564190), neutropenia (MESH:D009503), Deficiencies (MESH:D007153), IMD (MESH:D020739), GSD (MESH:D016098), organomegaly (MESH:D016878), glomerulosclerosis (MESH:D005921), tubular defects (MESH:D015499), PA (MESH:D056693), albuminuria (MESH:D000419), monogenic disorders (MESH:D009358), stone formation (MESH:D058426), muscle mass (MESH:C536030), Nephrocalcinosis (MESH:D009397), genetic metabolic disorders (MESH:D030342), encephalopathic metabolic crisis (MESH:D008659), seizures (MESH:D012640), Proteinuria (MESH:D011507), Cardiomyopathy (MESH:D009202), tubulopathies (MESH:C557674), acute kidney injury (MESH:D058186), Tubulointerstitial nephritis (MESH:D009395), arrhythmia (MESH:D001145), FSGS (MESH:D005923), FD (MESH:D000795), lysosomal dysfunction (MESH:D016464), polyuria (MESH:D011141), CKD (MESH:D051436), impaired glucose metabolism (MESH:D044882) - **Chemicals:** glucose (MESH:D005947), 5-deoxy-adenosyl-cobalamin (MESH:C000913), Creatinine (MESH:D003404), hydroxylysine (MESH:D006901), threonine (MESH:D013912), calcium (MESH:D002118), lysine (MESH:D008239), tryptophane (MESH:D014364), lipid (MESH:D008055), cobalamin (MESH:D014805), Migalastat (MESH:C090092), glutarylcarnitine (MESH:C053168), TCA (MESH:D014238), acylcarnitine (MESH:C116917), cornstarch (MESH:D013213), propionate (MESH:D011422), succinyl-CoA (MESH:C012046), carbohydrates (MESH:D002241), bicarbonate (MESH:D001639), NADP+ (MESH:D009249), urea (MESH:D014508), amino acid (MESH:D000596), methylmalonyl-CoA (MESH:C015357), carnitine (MESH:D002331), 2-methylcitrate (MESH:C031605), 3-OH-glutaric acid (-), propionyl-CoA (MESH:C009061), cholesterol (MESH:D002784), glycine (MESH:D005998), blood glucose (MESH:D001786), 3-hydroxypropionate (MESH:C031601), branched chain amino acids (MESH:D000597), propionylcarnitine (MESH:C003223), Glutaric acid (MESH:C035736), glycogen (MESH:D006003), valine (MESH:D014633), hydroxycobalamin (MESH:D006879), tricarboxylic acid (MESH:D014233), alanine (MESH:D000409), pentose phosphate (MESH:D010428), MMA (MESH:D008764), glycosphingolipid (MESH:D006028), isoleucine (MESH:D007532), acid (MESH:D000143), phosphate (MESH:D010710), methionine (MESH:D008715) - **Species:** Homo sapiens (human, species) [taxon 9606], Rattus norvegicus (brown rat, species) [taxon 10116], Mus musculus (house mouse, species) [taxon 10090] - **Mutations:** p.Trp64Ser, p.Arg301Gln ## Full text _Full body text omitted from this summary view._ Fetch the complete paper as Markdown: https://tomesphere.com/paper/PMC12910344/full.md ## Figures 2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12910344/full.md ## References 73 references — full list in the complete paper: https://tomesphere.com/paper/PMC12910344/full.md --- Source: https://tomesphere.com/paper/PMC12910344