| Fanconi syndrome |
Cystinosis |
CTNS
|
12 |
Cystinosin |
17p13.2 |
Autosomal recessive |
Infantile nephropathic cystinosis: Most severe form, occur at 3–4 mo of age with polyuria, polydipsia, failure to thrive, vomiting, constipation, growth retardation, and severe rickets |
| Adult nonnephropathic cystinosis: Photophobia is the only symptom due to deposition of cystine crystals in the cornea |
| Late-juvenile or adolescent nephropathic cystinosis: Manifests at 10–12 y of age, with proteinuria due to glomerular damage, photophobia, chronic headaches |
| Tyrosinemia type 1 |
FAH
|
14 |
Fumarylacetoacetate hydrolase |
15q25.1 |
Autosomal recessive |
Failure to thrive, liver and kidney failure, rickets, increased risk of hepatocellular carcinoma |
| Fanconi-Bickel |
SLC2A2/GLUT2
|
11 |
Glucose transporter GLUT2 |
3q26.2 |
Autosomal recessive |
Hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose |
| Wilson disease |
ATP7B
|
21 |
Copper-transporting P-type ATPase |
13q14.3 |
Autosomal recessive |
Swelling of the legs, yellowish skin, tremors, muscle stiffness, trouble speaking, and personality changes. Vitamin D resistant rickets may occur |
| Galactosemia |
GALT
|
11 |
Galactose-1-phosphate uridylyltransferase |
9p13.3 |
Autosomal recessive |
Vomiting, jaundice, hepatosplenomegaly, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis, and cataract |
| Lowe syndrome |
OCRL
|
23 |
Phosphatidylinositol-4,5-bisphosphate-5-phosphatase |
Xq26.1 |
X-linked recessive |
Renal abnormalities such as metabolic acidosis, polyuria, dehydration, hypophosphatemic rickets, neonatal hypotonia, delayed development of motor skills like sitting, standing, walking, behavioral problems, and seizures |
| Hereditary fructose intolerance |
ALDOB
|
9 |
Aldolase, fructose-Bisphosphate B |
13q14.3 |
Autosomal recessive |
Vomiting, hypoglycemia, jaundice, hemorrhage, hepatomegaly, hyperuricemia, and potentially kidney failure |
| Glycogen storage disorder type 1A |
G6PC
|
5 |
Glucose-6-phosphatase, catalytic |
17q21.31 |
Autosomal recessive |
Severe hypoglycemia and hepatomegaly due to accumulation of glycogen, growth retardation, hyperlipidemia, hyperuricemia, and hepatic adenoma in adulthood |
