Growth delay, and Aciduria

Diseases related with Growth delay and Aciduria

In the following list you will find some of the most common rare diseases related to Growth delay and Aciduria that can help you solving undiagnosed cases.

Top matches:

Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia.

FORMIMINOGLUTAMIC ACIDURIA Is also known as formiminotransferase cyclodeaminase deficiency|formiminoglutamic aciduria|figlu-uria|ftcd deficiency|formiminotransferase deficiency|glutamate formiminotransferase deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Anemia
  • Aciduria


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FORMIMINOGLUTAMIC ACIDURIA

Beta-aminoisobutyric acid (BAIB) is a product of pyrimidine catabolism. Excretion of BAIB in urine is a benign 'metabolic polymorphism' present in many human populations (Scriver and Perry, 1989).

BETA-AMINOISOBUTYRIC ACIDURIA; BAIBA Is also known as hyper-beta-aminoisobutyric aciduria|beta-aminoisobutyric acid, urinary excretion of|baib urinary excretion

Related symptoms:

  • Aminoaciduria


SOURCES: MESH OMIM MENDELIAN

More info about BETA-AMINOISOBUTYRIC ACIDURIA; BAIBA

Low match SACCHAROPINURIA

Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria.

SACCHAROPINURIA Is also known as saccharopine dehydrogenase deficiency|hyperlysinemia, type ii|alpha-aminoadipic semialdehyde synthase deficiency|hyperlysinemia type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SACCHAROPINURIA

Other less relevant matches:

Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features.

DENT DISEASE TYPE 2 Is also known as nephrolithiasis type 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Cognitive impairment
  • Intellectual disability, mild


SOURCES: ORPHANET OMIM MENDELIAN

More info about DENT DISEASE TYPE 2

Related symptoms:

  • Short stature
  • Renal insufficiency
  • Diabetes mellitus
  • Acidosis
  • Proteinuria


SOURCES: OMIM MENDELIAN

More info about FANCONI RENOTUBULAR SYNDROME 3; FRTS3

FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG; FRTS4 Is also known as frts4 with mody

Related symptoms:

  • Short stature
  • Hepatomegaly
  • Diabetes mellitus
  • Acidosis
  • Hypoglycemia


SOURCES: OMIM MENDELIAN

More info about FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG; FRTS4

Related symptoms:

  • Short stature
  • Muscle weakness
  • Pain
  • Renal insufficiency
  • Acidosis


SOURCES: OMIM MENDELIAN

More info about FANCONI RENOTUBULAR SYNDROME 2; FRTS2

GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E).

GRACILE SYNDROME Is also known as growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome|growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome|lactic acidosis, finnish, with hepatic hemosiderosis|fellman syndrome

Related symptoms:

  • Hearing impairment
  • Growth delay
  • Intrauterine growth retardation
  • Acidosis
  • Neonatal hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GRACILE SYNDROME

Fanconi renotubular syndrome is a consequence of decreased solute and water reabsorption in the proximal tubule of the kidney. Patients have polydipsia and polyuria with phosphaturia, glycosuria, and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis, and a tendency toward dehydration. Some will eventually develop renal insufficiency. Common laboratory abnormalities include glucosuria with a normal serum glucose, hyperaminoaciduria, hypophosphatemia, progressive renal insufficiency, renal sodium and potassium wasting, acidosis, uricosuria, and low-molecular-weight proteinuria (summary by Lichter-Konecki et al., 2001). Genetic Heterogeneity of Fanconi Renotubular SyndromeFanconi renotubular syndrome-1 has been mapped to chromosome 15q15.3. See also FRTS2 (OMIM ), caused by mutation in the SLC34A1 gene (OMIM ) on chromosome 5q35; FRTS3 (OMIM ), caused by mutation in the EHHADH gene (OMIM ) on chromosome 3q27; and FRTS4 (OMIM ), which is associated with maturity-onset diabetes of the young (MODY), caused by mutation in the HNF4A gene (OMIM ) on chromosome 20q13.

PRIMARY FANCONI SYNDROME Is also known as fanconi syndrome without cystinosis|primary fanconi renotubular syndrome|renal fanconi syndrome|frts|luder-sheldon syndrome|fanconi renotubular syndrome|rfs|adult fanconi syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Renal insufficiency
  • Diabetes mellitus


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY FANCONI SYNDROME

3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY Is also known as hadh deficiency|schad deficiency, formerly

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Cardiomyopathy
  • Encephalopathy
  • Hypoglycemia


SOURCES: MESH OMIM MENDELIAN

More info about 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Growth delay and Aciduria

Symptoms // Phenotype % cases
Aminoaciduria Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Acidosis Common - Between 50% and 80% cases
Rickets Uncommon - Between 30% and 50% cases
Glycosuria Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Growth delay and Aciduria. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Proteinuria Intellectual disability Metabolic acidosis Hypercalciuria Renal insufficiency Diabetes mellitus Global developmental delay Hyperphosphaturia

Rare Symptoms - Less than 30% cases

Renal Fanconi syndrome Hypophosphatemia Generalized aminoaciduria Low-molecular-weight proteinuria Proximal tubulopathy Renal tubular acidosis Hypoglycemia Chronic kidney disease Nephrocalcinosis Hepatic steatosis Muscle weakness Umbilical hernia Maturity-onset diabetes of the young Increased serum ferritin Increased serum pyruvate Anemia Increased serum iron Elevated hepatic iron concentration Chronic lactic acidosis Decreased transferrin saturation Dehydration Hypokalemia Polydipsia Polyuria Osteomalacia Renal tubular dysfunction Hypophosphatemic rickets Lacticaciduria Cholestasis Hypoketotic hypoglycemia Hypoglycemic encephalopathy Fulminant hepatic failure Hepatic necrosis Recurrent myoglobinuria Dicarboxylic aciduria Hypoglycemic seizures Myoglobinuria Generalized hypotonia Hepatic failure Dilated cardiomyopathy Feeding difficulties in infancy Hypertrophic cardiomyopathy Encephalopathy Cardiomyopathy Severe intrauterine growth retardation Hepatitis Elevated serum creatine phosphokinase Spastic diplegia Positive ferric chloride test Seizures Delayed speech and language development Bowing of the legs Hyperactivity EEG abnormality Cystinuria Hypersegmentation of neutrophil nuclei Hyperlysinuria Hyperlysinemia Histidinuria Cognitive impairment Intellectual disability, mild Hernia Hepatomegaly Elevated hepatic transaminase Megaloblastic anemia Renal phosphate wasting Cirrhosis Lactic acidosis Neonatal hypotonia Intrauterine growth retardation Hearing impairment Elevated alkaline phosphatase of bone origin Folate deficiency Large for gestational age Bone pain Osteopenia Pain Megaloblastic bone marrow Hypouricemia Neonatal hypoglycemia Decreased activity of 3-hydroxyacyl-CoA dehydrogenase


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