Feeding difficulties, and Neutropenia

Diseases related with Feeding difficulties and Neutropenia

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

Top matches:

Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Different forms of isolated methylmalonic aciduria have been classified according to complementation groups of cells in vitro. Patients with defects in the synthesis of AdoCbl are usually responsive to vitamin B12 therapy and are classified as 'cbl' type: these include cblA and cblB (OMIM ), which is caused by mutation in the MMAB gene (OMIM ) on 12q24. See also cblH (OMIM ), which may be a subset of cblA. The 'mut' form of MMA (OMIM ) is caused by mutation in the MUT gene on chromosome 6p. In general, the mut form of MMA is unresponsive to vitamin B12 therapy.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).

VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLA Is also known as methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cbla type|vitamin b12-responsive methylmalonic aciduria type cbla|methylmalonic acidemia, cbla type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLA

Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Different forms of isolated methylmalonic aciduria have been classified according to complementation groups of cells in vitro. Patients with defects in the synthesis of AdoCbl are usually responsive to vitamin B12 therapy and are classified as 'cbl' type: these include cblB and cblA (OMIM ). The cblA type is caused by mutation in the MMAA gene (OMIM ). The 'mut' type (OMIM ) is caused by mutation in the MUT gene; in general, the mut form of MMA is unresponsive to vitamin B12 therapy.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), and cblF (OMIM ).

VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLB Is also known as vitamin b12-responsive methylmalonic aciduria, type cblb|methylmalonic acidemia, cblb type|methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLB

Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT- Is also known as vitamin b12-unresponsive methylmalonic aciduria type mut-|partial deficiency of methylmalonyl-coa mutase

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT-

Other less relevant matches:

cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF Is also known as cobalamin, defect in lysosomal release of|cobalamin f defect|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblf|cblf|vitamin b12 storage disease|vitamin b12 lysosomal release defect|methylmalonic aciduria due to vitamin b12-rele

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF

MGCA8 is an autosomal recessive metabolic disorder resulting in death in infancy. Features include hypotonia, abnormal movements, respiratory insufficiency with apneic episodes, and lack of developmental progress, often with seizures. Brain imaging is variable, but may show progressive cerebral atrophy. Laboratory studies show increased serum lactate and 3-methylglutaconic aciduria, suggesting a mitochondrial defect (summary by Mandel et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII; MGCA8

Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia (Stepensky et al., 2017).For a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME 2; SDS2

Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.

NEONATAL GLYCINE ENCEPHALOPATHY Is also known as classic glycine encephalopathy|neonatal nkh|nkh|neonatal non-ketotic hyperglycinemia|hyperglycinemia, nonketotic

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEONATAL GLYCINE ENCEPHALOPATHY

Hermansky-Pudlak syndrome-10 is an autosomal recessive multisystem disorder characterized by infantile onset of immunodeficiency, oculocutaneous albinism, and severe neurologic impairment, including severely delayed global development and intractable seizures (summary by Ammann et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 10; HPS10

Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous metabolic disorder of cobalamin (cbl; vitamin B12) metabolism, which is essential for hematologic and neurologic function. Biochemically, the defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). The cblJ type is phenotypically and biochemically similar to the cblF type (MAHCF ) (summary by Coelho et al., 2012).

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLJ Is also known as combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblj|methylmalonic aciduria with homocystinuria, type cblj|cblj defects|cobalamin j defect

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLJ

Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders.

HEREDITARY FOLATE MALABSORPTION Is also known as congenital folate malabsorption

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEREDITARY FOLATE MALABSORPTION

Top 5 symptoms//phenotypes associated to Feeding difficulties and Neutropenia

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Thrombocytopenia Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Feeding difficulties and Neutropenia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Aciduria

Uncommon Symptoms - Between 30% and 50% cases

Lethargy

Common Symptoms - More than 50% cases

Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive Intellectual disability Respiratory distress Pancytopenia Methylmalonic acidemia Ataxia Homocystinuria Methylmalonic aciduria Microcephaly Decreased adenosylcobalamin Vomiting Coma Feeding difficulties in infancy Acidosis Hepatomegaly Immunodeficiency Dystonia Cerebral atrophy Growth delay Low-set ears Dehydration Hyperglycinemia Tremor Hyperammonemia

Rare Symptoms - Less than 30% cases

Decreased methylmalonyl-CoA mutase activity Motor delay Macrocytic anemia Normocytic anemia Glossitis Hyperhomocystinemia Decreased methylcobalamin Decreased methionine synthase activity Recurrent infections Pneumonia Hyperreflexia Recurrent respiratory infections Gastroesophageal reflux Hypoplasia of the corpus callosum Hypertonia Metabolic acidosis Apnea Generalized myoclonic seizures Poor suck Weak cry Respiratory tract infection Hypertension Megaloblastic anemia Leukopenia Diarrhea Ketonuria Abnormality of the nervous system Nausea and vomiting Abnormality of movement Choreoathetosis Optic atrophy Anorexia Ketosis Splenomegaly Irritability High palate Encephalopathy Behavioral abnormality Generalized tonic-clonic seizures EEG abnormality Smooth philtrum Hypsarrhythmia Intellectual disability, profound Abnormal bleeding Delayed myelination Hepatosplenomegaly Muscular hypotonia of the trunk Posterior fossa cyst Limb ataxia Infantile spasms Vertical supranuclear gaze palsy Delirium Nonketotic hyperglycinemia Ketoacidosis Restlessness Episodic ketoacidosis Spastic diplegia Retrognathia Recurrent singultus Pill-rolling tremor Nystagmus Impulsivity Hyperglycinuria Macrotia Hypotelorism Peripheral neuropathy Albinism Eosinophilia Decreased antibody level in blood Focal-onset seizure Cerebral calcification Recurrent urinary tract infections Chronic diarrhea Aspiration Increased body weight Recurrent upper respiratory tract infections Dyskinesia Athetosis Abnormality of the immune system Basal ganglia calcification Drowsiness Proximal amyotrophy Cheilitis Oral ulcer Folate deficiency Sepsis Malabsorption Interstitial pulmonary abnormality Inguinal hernia Arachnoid cyst Pierre-Robin sequence Ocular albinism Hypertelorism Micrognathia Cryptorchidism Atrial septal defect Wide intermamillary distance Pallor Coarctation of aorta Pulmonary arterial hypertension Tachypnea Bell-shaped thorax Abnormal posturing Horizontal ribs Severe global developmental delay Skeletal muscle atrophy Chorea Metaphyseal irregularity Attention deficit hyperactivity disorder Hearing impairment Rheumatoid arthritis Juvenile rheumatoid arthritis Stomatitis Megaloblastic bone marrow Cystathioninuria Cystathioninemia Sensorineural hearing impairment Psychosis Cataract Fever Ventriculomegaly Respiratory insufficiency Respiratory failure Increased serum lactate Abnormality of extrapyramidal motor function Incoordination Abnormality of the skin Bradycardia Stroke Abnormality of mitochondrial metabolism Abnormality of the mitochondrion Dysarthria Cardiomyopathy Renal insufficiency Abdominal pain Pancreatitis Small for gestational age Epicanthus Abnormal heart morphology Thin upper lip vermilion Arthritis Developmental regression Skin rash Microtia Postnatal microcephaly Clonus Autistic behavior Visual loss Subglottic stenosis Laryngeal cleft Hyperechogenic pancreas Hydrocephalus Intellectual disability, severe Intellectual disability, mild Hyporeflexia Prolonged partial thromboplastin time Agenesis of corpus callosum Myoclonus Hyperactivity Autism Neonatal hypotonia Aggressive behavior Intellectual disability, moderate Prolonged prothrombin time Mild global developmental delay Increased CSF lactate Severe muscular hypotonia 3-Methylglutaconic aciduria Short stature Myopia Constipation High myopia Rhizomelia Genu varum Severe failure to thrive Laryngomalacia Metaphyseal widening Mild short stature Neurodevelopmental delay Steatorrhea Metaphyseal dysplasia Exocrine pancreatic insufficiency Folate-responsive megaloblastic anemia


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