Table 2

Summary of hepatic and renal anomalies associated with inherited metabolic disorders

Metabolic conditionDeficient enzymeRenal abnormalitiesHepatic abnormalitiesAssociated featuresBiochemical pathway involved
DHCR7, 7-dehydrocholesterol reductase; CPT II, carnitine palmitoyl transferase type II; ETF, electron transfer flavoprotein; ETF-QO, ETF ubiquinone oxidoreductase; NALD, neonatal adrenoleucodystrophy; IRD, infantile Refsum’s disease; RCDP, rhizomelic chondrodysplasia punctata; HPA, hyperpipecolic aciduria; PMM2, phosphomannomutase.
Smith-Lemli-Opitz syndromeDHCR7Renal hypoplasia and aplasia, renal cortical cysts, ectopia and hydronephrosisAbnormal bile acids, iron deposits, cholestasis, dysplasia, and hypoplasia of the gallbladderSkeletal malformations, including polydactyly and syndactyly, craniofacial defects, genital anomalies, severe developmental delayCholesterol metabolism
Neonatal lethal form of CPT II deficiencyCPT IIGrossly enlarged cystic kidneysMicrovesicular steatosis, hepatomegalyHypoketotic hypoglycaemia, cardiomyopathyMitochondrial fatty acid oxidation (CPTII is involved in carnitine cycle, which is required for long chain fatty acid transport into the mitochondria)
Glutaric acidaemia type II, severe variant with neonatal onset with congenital anomaliesETF or ETF-QOGrossly enlarged kidneys, cortical or medullary cysts, occasionally with dysplastic changesBile duct hypoplasia and cholestasis, microvesicular steatosis, hepatomegaly; in later onset may present with Reye’s syndromeFacial dysmorphism, “rocker bottom” feet, CNS anomalies (neuronal migration defects), abdominal wall muscle defects, hyperammonaemia, cardiomyopathyIntermediary electron carriers between primary flavoprotein dehydrogenases and terminal mitochondrial respiratory chains
Peroxisome biogenesis disorders: 
 (a) Zellweger spectrum disorders (80%); includes ZS, NALD, IRD, HPA 
 (b) RCDP (20%)(a) Mutations in any of the PEX genes 
 (b) Usually PEX7 mutationsVarious renal cysts, including multiple microcysts (not reported in NALD and IRD)Abnormalities in liver architecture, cholestasis, siderosis, fibrosis progressing to cirrhosis (not reported in RCDP)Craniofacial dysmorphism, ocular abnormalities, CNS abnormalities, developmental delay, hypotonia and seizures, skeletal abnormalities (predominantly RCDP)(a) Defect in function of all peroxisomal enzymes 
 (b) Peroxisomal plasmalogen biosynthesis and branch chain fatty acid oxidation defects
Congenital disorder of glycosylation type IaPMM2Variable renal cysts, proteinuriaSteatosis, fibrosis, glycogen accumulation, occasionally liver failureCNS abnormalities, hypogonadism, facial dysmorphic features, abnormal subcutaneous adipose tissue distribution, stroke-like episodesAbnormal glycosylation of a large number of glycoproteins