Lysosomal storage diseases | Non-lysosomal inborn errors of metabolism | ||
---|---|---|---|
transient NIHF/ascites | NIHF with prominent ascites | NIHF (pericardial and/or pleural effusion, ascites, skin edema) | Â |
Mucopolysaccharidosis: | Â | Â | Glycogenosis: |
 |  |  | |
MPS IVA (this publication) | Â | Congenital disorder of glycosylation: | |
MPS VII (this publication) | Â | ||
Peroxismal disorder: | |||
Zellweger syndrome[44] | |||
Sphingolipidosis/Oligosaccharidoses: | Â | Â | Fatty acid oxidation defects: |
GM1-Gangliosidosis[14, 15] Niemann-Pick C (this publication) | Long-chain-hydroxyacyl CoA dehydrogenase deficiency (LCHAD)[50] | ||
GM1-gangliosidosis[29] | Primary carnitine deficiency[52] | ||
Gaucher Type II[55] | Cholesterol biosynthesis defects: | ||
Smith-Lemli-Opitz Syndrome[57] | |||
Niemann-Pick C[58] | Greenberg syndrome: Hydrops-ectopic calcification moth-eaten skeletal dysplasia[59] | ||
Conradi Huenermann: Chondrodysplasia punctata[61] (X linked disorder: male fetus) | |||
Lysosomal transport defect: | Infantile sialic acid storage disease[62] | Infantile sialic acid storage disease[63] | |
Others: | |||
Others: | Wolman disease[66] | Mucolipidosis Type II (I-cell disease)[67] | Neonatal hemochromatosis[20] |
 |  |  | Transaldolase deficiency[68] |
 |  |  | S-adenosylhomocysteine hydrolase deficiency[69] |
 |  |  | Congenital erythropoietic porphyria[70] |