Macrocephaly, and Aciduria

Diseases related with Macrocephaly and Aciduria

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

Top matches:

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.

METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-COA EPIMERASE DEFICIENCY Is also known as methylmalonic acidemia due to methylmalonyl-coa racemase deficiency|methylmalonyl-coa racemase deficiency|methylmalonic aciduria due to methylmalonyl-coa racemase deficiency|methylmalonic aciduria due to methylmalonyl-coa epimerase deficiency|mcee deficie

Related symptoms:

  • Failure to thrive
  • Spasticity
  • Motor delay
  • Macrocephaly
  • Hydrocephalus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-COA EPIMERASE DEFICIENCY

Combined D-2- and L-2-hydroxyglutaric aciduria (D-2-HG and L-2-HG) is an autosomal recessive neurometabolic disorder characterized by neonatal-onset encephalopathy with severe muscular weakness, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death. Brain imaging shows abnormalities including enlarged ventricles, delayed myelination, and germinal layer cysts (summary by Muntau et al., 2000).See also isolated L-2-hydroxyglutaric aciduria (OMIM ) and isolated D-2-hydroxyglutaric aciduria (see {600721}).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA; D2L2AD

Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder.

PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY Is also known as pepck deficiency|pc deficiency|leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency|ataxia with lactic acidosis ii|leigh syndrome due to pyruvate carboxylase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY

Other less relevant matches:

Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria (see these terms). Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.

METAPHYSEAL CHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA Is also known as spondyloenchondromatosis with d-2-hydroxyglutaric aciduria|metaphyseal enchondrodysplasia with 2-hydroxyglutaric aciduria|metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Strabismus
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about METAPHYSEAL CHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA

L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.

L-2-HYDROXYGLUTARIC ACIDURIA Is also known as l-2-hga|l-2-hydroxyglutaric acidemia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about L-2-HYDROXYGLUTARIC ACIDURIA

Molybdenum cofactor deficiency (MOCOD) is a rare autosomal recessive metabolic disorder characterized by onset in infancy of poor feeding, intractable seizures, and severe psychomotor retardation. Characteristic biochemical abnormalities include decreased serum uric acid and increased urine sulfite levels due to the combined enzymatic deficiency of xanthine dehydrogenase (XDH ) and sulfite oxidase (SUOX ), both of which use molybdenum as a cofactor. Most affected individuals die in early childhood (summary by Reiss, 2000; Reiss et al., 2011). Genetic Heterogeneity of Molybdenum Cofactor DeficiencySee also MOCOD, complementation group B (MOCODB ), caused by mutation in the MOCS2 gene (OMIM ) on chromosome 5q11; and MOCOD, complementation group C (MOCODC ), caused by mutation in the GPHN gene (OMIM ) on chromosome 14q24.

SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A Is also known as sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type a|mocod type a

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A

Molybdenum cofactor deficiency is a rare autosomal recessive metabolic disorder characterized by neonatal onset of intractable seizures, opisthotonus, and facial dysmorphism associated with hypouricemia and elevated urinary sulfite levels. Affected individuals show severe neurologic damage and often die in early childhood (summary by Reiss et al., 1999).For a general phenotypic description and a discussion of genetic heterogeneity of MOCOD, see MOCODA (OMIM ), which is clinically indistinguishable from MOCODB.

SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE B Is also known as combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type b|mocod type b

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE B

Low match CANAVAN DISEASE

CANAVAN DISEASE Is also known as spongy degeneration of central nervous system|aminoacylase 2 deficiency|asp deficiency|aspartoacylase deficiency|aspa deficiency|acy2 deficiency|canavan-van bogaert-bertrand disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about CANAVAN DISEASE

D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.

D-2-HYDROXYGLUTARIC ACIDURIA Is also known as d-2-hga|d-2-hydroxyglutaric acidemia|d2hga

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about D-2-HYDROXYGLUTARIC ACIDURIA

3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY; MCC2D Is also known as 3-methylcrotonylglycinuria ii|mcc2 deficiency|methylcrotonylglycinuria, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY; MCC2D

Top 5 symptoms//phenotypes associated to Macrocephaly and Aciduria

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Feeding difficulties Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia Encephalopathy Ventriculomegaly Vomiting Microcephaly Opisthotonus Cerebral atrophy Nystagmus Irritability D-2-hydroxyglutaric aciduria Failure to thrive Leukodystrophy Frontal bossing Hyperreflexia Abnormal facial shape Growth delay Spastic tetraparesis Tetraparesis Peripheral demyelination Gliosis Respiratory distress Acidosis Motor delay Metabolic acidosis Dystonia

Rare Symptoms - Less than 30% cases

Spasticity Optic atrophy Thick vermilion border Ketoacidosis Periventricular leukomalacia Long face Blindness Feeding difficulties in infancy Respiratory insufficiency EEG abnormality Dehydration Necrotizing encephalopathy Long philtrum Short nose Behavioral abnormality Hypertonia Brain atrophy Hydrocephalus Gastroesophageal reflux Strabismus Organic aciduria Hypertelorism Dilatation Alopecia Myoclonus Lethargy Hypoplasia of the corpus callosum Full cheeks Hyperammonemia Stridor Xanthinuria Increased urinary hypoxanthine Molybdenum cofactor deficiency Increased urinary taurine Apnea Hepatomegaly Dolichocephaly Hypouricemia Cerebral visual impairment Severe muscular hypotonia Myoclonic spasms Tachypnea Axonal loss Lens luxation Muscle weakness Congestive heart failure Ketonuria Spastic tetraplegia Neuronal loss in central nervous system Hypoglycemia Poor head control Inspiratory stridor Visual impairment Intellectual disability, severe Ectopia lentis Developmental regression Xanthine nephrolithiasis L-2-hydroxyglutaric aciduria Hearing impairment CNS demyelination Homocystinuria Delayed closure of the anterior fontanelle Reduced consciousness/confusion Megalencephaly Cardiorespiratory arrest Babinski sign Abnormality of visual evoked potentials Oral-pharyngeal dysphagia Hyperkinesis Cerebral palsy Aspiration Abnormality of retinal pigmentation Generalized-onset seizure Sleep disturbance Paralysis Rigidity Diffuse cerebral atrophy Cognitive impairment Flexion contracture Dysphagia Flat face Vegetative state Myopathy Episodic vomiting Generalized tonic seizures Narrow naris Anteverted ears Infantile encephalopathy Glutaric aciduria Cardiogenic shock Subependymal cysts Multifocal cerebral white matter abnormalities Skeletal muscle atrophy Fatigue Depressivity Dilation of lateral ventricles Elevated hepatic transaminase Hepatic steatosis Coma Cyanosis Progressive neurologic deterioration Hypoventilation Seborrheic dermatitis Decreased plasma carnitine Hyperglycinuria Neutrophilia Encephalomalacia Propionyl-CoA carboxylase deficiency Delayed CNS myelination Increased CSF protein Decerebrate rigidity Mandibular prognathia Nasal regurgitation Aplasia/Hypoplasia involving the central nervous system Micrognathia Wide nasal bridge Anteverted nares Cardiomyopathy Malar flattening Prominent forehead Brachycephaly Hyperactivity Cerebral cortical atrophy Skeletal dysplasia Turricephaly Coarse facial features Protruding ear Absent urinary urothione Broad nasal tip Focal-onset seizure Epileptic encephalopathy Hypsarrhythmia Involuntary movements Absence seizures Aortic regurgitation Shock Focal impaired awareness seizure Aldehyde oxidase deficiency Morphological abnormality of the pyramidal tract Decreased urinary urate Increased head circumference Athetosis Renal tubular acidosis Dysgraphia Hyperalaninemia Increased serum pyruvate Cystinuria Proximal renal tubular acidosis Periventricular cysts Clonus Chronic metabolic acidosis Congenital lactic acidosis Neuronal loss in the cerebral cortex Short stature Scoliosis Depressed nasal bridge Epicanthus Joint laxity CNS hypomyelination Increased serum lactate Genu valgum Dyspnea Diarrhea Methylmalonic aciduria Methylmalonic acidemia Neoplasm Clinodactyly Cerebellar hypoplasia Agenesis of corpus callosum Delayed myelination Lactic acidosis Postnatal microcephaly Optic nerve hypoplasia Poor suck Apathy Poor eye contact Dysarthria Renal insufficiency Pneumonia Abnormality of the pinna Short palm Increased urinary thiosulfate Severe demyelination of the white matter Global brain atrophy Dysphasia Atrophy/Degeneration affecting the brainstem Corpus callosum atrophy Neoplasm of the nervous system Ependymoma L-2-hydroxyglutaric acidemia Deeply set eye Encephalitis Severe global developmental delay Progressive microcephaly Hemiplegia Abnormal muscle tone Sulfite oxidase deficiency Decreased urinary sulfate Increased urinary sulfite Reduced xanthine dehydrogenase activity Aplasia/Hypoplasia of the cerebellum Leukoencephalopathy Tapered finger Delayed speech and language development Waddling gait Rhizomelia Thoracic scoliosis Irregular vertebral endplates Thoracolumbar scoliosis Cavum septum pellucidum Abnormality of dental eruption Ataxia Atrial septal defect Intellectual disability, progressive Cerebellar atrophy Intellectual disability, mild Gait ataxia Abnormal pyramidal sign Abnormal cerebellum morphology Abnormality of extrapyramidal motor function Truncal ataxia Horizontal nystagmus Acute hyperammonemia


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