Abstract Lipids from Mycobacterium tuberculosis are presented through CD1 proteins to T lymphocytes in humans, but the accessory molecules required for antigen loading and presentation remain unidentified. [nature.com]

Acronym AKRD Synonyms Saposin A deficiency Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

However, patients with saposin C deficiency who have the more common type 1 Gaucher disease presentation have also been reported. [genedx.com]

Adult-onset patients can survive many years after symptoms present. The documents contained in this web site are presented for information purposes only. [orpha.net]

Farber disease may present in utero with hydrops fetalis. [basicmedicalkey.com]

• Virilization

  […] peritoneal carcinoma Short stature due to partial GHR deficiency Heritable pulmonary arterial hypertension Congenital bilateral absence of vas deferens Cystic fibrosis Hereditary chronic pancreatitis Idiopathic bronchiectasis Male infertility with normal virilization [csbg.cnb.csic.es]

• Respiratory Insufficiency

  Affiliated tissues include brain, and related phenotypes are respiratory insufficiency and hypertonia [malacards.org]

  […] failure 0002878 Respiratory insufficiency Respiratory impairment 0002093 Showing of 11 | Last updated: 5/1/2019 Making a diagnosis for a genetic or rare disease can often be challenging. [rarediseases.info.nih.gov]

  Symptoms begin in infancy and include failure to thrive, vomiting, painful and progressively deformed joints, subcutaneous nodules that are especially prominent near joints, and laryngeal involvement with hoarseness and respiratory insufficiency. [basicmedicalkey.com]

• Hoarseness

  3 LAMB-2-related infantile-onset nephrotic syndrome Muscular dystrophy, Selcen type Pierson syndrome Synaptic congenital myasthenic syndromes Autosomal dominant Charcot-Marie-Tooth disease type 2K Autosomal recessive Charcot-Marie-Tooth disease with hoarseness [csbg.cnb.csic.es]

  Symptoms begin in infancy and include failure to thrive, vomiting, painful and progressively deformed joints, subcutaneous nodules that are especially prominent near joints, and laryngeal involvement with hoarseness and respiratory insufficiency. [basicmedicalkey.com]

• Anosmia

  - GeneReviews® Hypogonadotropic hypogonadism 21 with or without anosmia Hypogonadotropic hypogonadism 21 with or without anosmia MedGen Autosomal dominant prognathism Autosomal dominant prognathism MedGen [Treatment of iatrogenic Cushing syndrome: questions [ncbi.nlm.nih.gov]

  […] with or without Anosmia 1 Hypogonadotropic Hypogonadism 20 with or without Anosmia 1 Hypogonadotropic Hypogonadism 21 with Anosmia 1 Hypogonadotropic Hypogonadism 22, with or without Anosmia 1 Hypogonadotropic Hypogonadism 7 with or without Anosmia 7 [preventiongenetics.com]

• Prognathism

  - GeneReviews® Hypogonadotropic hypogonadism 21 with or without anosmia Hypogonadotropic hypogonadism 21 with or without anosmia MedGen Autosomal dominant prognathism Autosomal dominant prognathism MedGen [Treatment of iatrogenic Cushing syndrome: questions [ncbi.nlm.nih.gov]

• Xanthoma

  Xanthoma tuberosum References Diaz-Font et al., (2005) Hum Genet 117:275- 277. [genedx.com]

• Eruptions

  […] floating-betalipoproteinemia, Combined hyperlipidemia, Elevated cholesterol with elevated triglycerides NEC, Fredrickson Type IIb or III hyperlipoproteinemia, Hypercholesterolemia with endogenous hyperglyceridemia, Hyperbetalipoproteinemia with prebetalipoproteinemia, Tubo-eruptive [genedx.com]

• Hyporeflexia

  Clinical features include neurologic regression around age 3 months, loss of spontaneous movements, hyporeflexia, generalized brain atrophy, and diffuse white matter dysmyelination. [uniprot.org]

  […] have these symptoms is not available through HPO Autosomal recessive inheritance 0000007 Central apnea 0002871 Cerebral dysmyelination 0007266 Death in childhood 0003819 Global brain atrophy Generalized brain degeneration 0002283 Hypertonia 0001276 Hyporeflexia [rarediseases.info.nih.gov]

• Responsiveness Decreasing

  […] reflex response Decreased reflexes [ more ] 0001265 Increased CSF protein 0002922 Infantile onset Onset in first year of life Onset in infancy [ more ] 0003593 Respiratory failure 0002878 Respiratory insufficiency Respiratory impairment 0002093 Showing [rarediseases.info.nih.gov]

Historically, morphologic studies and biochemical documentation of enzyme deficiency in leukocytes, fibroblasts, or amniocytes were key components of the diagnostic workup. [basicmedicalkey.com]

• Hypercholesterolemia

  330.0 Leukodystrophy 272.7 Lipidoses (Fabry Disease) 272.2 Mixed hyperlipidemia, Broad- or floating-betalipoproteinemia, Combined hyperlipidemia, Elevated cholesterol with elevated triglycerides NEC, Fredrickson Type IIb or III hyperlipoproteinemia, Hypercholesterolemia [genedx.com]

  Autosomal Dominant, 3 2 Hypercholesterolemia, Autosomal Dominant, Type B 2 Hypercholesterolemia, Autosomal Recessive 2 Hyperferritinemia Cataract Syndrome 1 Hyperimmunoglobulin D With Periodic Fever 3 Hyperimmunoglobulin E Recurrent Infection Syndrome [preventiongenetics.com]

Treatment - Krabbe disease- atypical- due to Saposin A deficiency There is no specific treatment for Krabbe disease. Some people have had a bone marrow transplant in the early stages of the disease, but this treatment has risks. [checkorphan.org]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

Management and treatment Treatment is limited to hematopoietic stem cell transplantation in pre-symptomatic infantile patients and mildly affected late-onset patients and has been shown to slow the progression of the disease. [orpha.net]

Nenad Blau, Marinus Duran, K Michael Gibson, Carlo Dionisi Vici Springer, 08.07.2014 - 867 Seiten This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases [books.google.de]

Results are better if treatment is commenced during infancy before development of symptoms. These treatments are experimental and long range outcomes remain uncertain. [disorders.eyes.arizona.edu]

Prognosis - Krabbe disease- atypical- due to Saposin A deficiency The outcome is likely to be poor. On average, infants with early-onset cases die before age 2. [checkorphan.org]

Prognosis Neurodegeneration and early death (< 2-3 years) occurs in most infantile cases. In late infantile/juvenile patients, the disease is generally fatal 2-7 years after the symptoms begin. [orpha.net]

However, for the purposes of determining prognosis and management, the classification of GD by clinical subtype is still useful in describing the wide range of clinical findings and broad variability in presentation. [flipper.diff.org]

Etiology The disease is due to mutations in the GALC gene (14q31) encoding the lysosomal enzyme galactocerebrosidase, that catabolizes the hydrolysis of galactose from galactocerebroside and galactosylsphingosine (psychosine). [orpha.net]

2H Charcot-Marie-Tooth disease type 4A Parkinsonian-pyramidal syndrome Synonym(s): (no synonyms) Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease Classification (ICD10): - Endocrine, nutritional and metabolic diseases - Epidemiological [csbg.cnb.csic.es]

Summary Epidemiology It has an estimated prevalence of 1/100,000 in the Northern European population (higher in certain populations) and a worldwide incidence of 1/100,000-1/250,000 live births. [orpha.net]

However, epidemiological studies conducted in the USA and Israel have shown that the incidence of this disorder amongst Ashkenazi Jews is significantly higher than this, with a prevalence of about 1 in 450 in this population (High frequency of the Gaucher [flipper.diff.org]

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Krabbe disease (globoid cell leukodystrophy) is an autosomal recessive disorder caused by a deficiency of galactocerebrosidase [mayomedicallaboratories.com]

PMID 11309366 Physiology and pathophysiology of sphingolipid metabolism and signaling. Huwiler A, Kolter T, Pfeilschifter J, Sandhoff K Biochimica et biophysica acta. 2000 ; 1485 (2-3) : 63-99. [atlasgeneticsoncology.org]

J Clin Endocrinol Metab 93:2084–2088 PubMed CrossRef Google Scholar Werner ER, Blau N, Thöny B (2011) Tetrahydrobiopterin: Biochemistry and pathophysiology (review). [link.springer.com]

But studying the morphologic changes of these diseases still conveys important insights into the underlying pathophysiologic concepts. [basicmedicalkey.com]

Symptoms - Krabbe disease- atypical- due to Saposin A deficiency Causes - Krabbe disease- atypical- due to Saposin A deficiency Prevention - Krabbe disease- atypical- due to Saposin A deficiency Genetic counseling is recommended for persons with a family [checkorphan.org]

PMID 8780053 Prosaposin treatment induces PC12 entry in the S phase of the cell cycle and prevents apoptosis: activation of ERKs and sphingosine kinase. [atlasgeneticsoncology.org]

Neonatal diagnosis and treatment of phenylketonuria (PKU) and congenital hypothyroidism prevent severe intellectual disability. [currents.plos.org]