3. Metabolic Disorder and Degenerative Disorderindonesia1
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Metabolic Disorder Metabolic Disorder and Degenerative and Degenerative
DisorderDisorder
Metabolic Disorder Metabolic Disorder and Degenerative and Degenerative
DisorderDisorder
Dr Dikki Drajat SpB., SpBADr Dikki Drajat SpB., SpBA
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Metabolic disorder• Definition :
A metabolic disorder is any problem in the body that causes loss of metabolic control of the body's steady state (Glanze et al, 1986)
• Insidensi:Jarang
phenylketonuria : < 1 in 12.000
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Metabolic DisordersMetabolisme, enzym and Metabolic
Disorders• Metabolisme
Kumpulan proses kimia dimana sel tubuh menggunakan zat nutrisi dari makanan menjadi energi
– Katabolisme :pemecahan molekul besar (e.g. glycogen) molekul kecil(e.g. pyruvic acid)
– Anabolisme: pembangunan , dr molekul kecil (e g. Amino acids) molecules besar (e.g. proteins);
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Metabolic Disorders
• Enzym Penting dlm metabolisme, sbg “helpers” (katalisator)
Metabolic processes Metabolic disorder
Growth produce energy eliminate wastes
Maintain homeostasis or a steady state
Disturbance
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• Anabolisme
• Katabolisme
Smallmolecules
enzym
Larger molecules
Large molecules Small molecules
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Metabolic disorder
• AnabolismeSmall molecules >>Large molecoles deficiency
• KatabolismeLarge molecules >>
Small molecules deficiency
Smallmolecules
enzym
Larger molecules
Large molecules
Small molecules
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Metabolic disorder
Genetik dan Biokimiawi Penyakit Metabolisme
• Hpr semua diturunkan scr autosomal recessive
• Defek pada enzimyg penting pd proses metabolisme.
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Metabolic disorder
Defek pd enzim
• Toxic level• Defisiensi nutrient
• Gangguan pertumbuhan• Retardasi mental• Koma/kematian
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Metabolic Disorder
Manifestasi Klinis : • Asimptomatik• Simptomatik
– Ringan– Berat/ fatal bila tidak dikenali dan ditangani
pada periode neonatal Bila tdk ditangani atau tidak adekuat
retardasi mental, kerusakan neurologik, koma, dan/atau kematian.
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Metabolic disorderContoh:• Phenylketonuria : Tdk mampu
memetabolisir a.a. phenylalanine menjadi a.a. tyrosine phenylalanine berlebihan di tubuh dan tyrosine tdk terbentuk
Klinis: Retardation mental, atethosis, hyperaktif, kulit dan rambut lebih terang, mousy odor
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Metabolic disorder
DIABETES MELITUS
• Peny metabolik kronik, tubuh tdk mampu menggunakan KH akibat defisiensi insulin
• Meningkatkan Risiko kebutaan, penyakit jantung, gagal ginjal , kelainan nerologis
• Resistensi jaringan thd infeksi rendah dan memperlambat penyembuhan.
• Lebih rentan thd peny periodontal . Dpt disertai dgn kondisi gusi yg mudah berdarah.
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Metabolic disorder
• Maple syrup urine diseaseTdk mampu memetabolisir Leucyne, isoleucine
and valine• Urine berbau sirup maple • Vomit, acidosis• Letargis,kejang2, koma, retardasi mental,
kematian
Gangguan metabolik sekunder:• Azotemia (Gagal ginjal):
– uremic odor/foetor uremicum– Lidah kering dan pucat
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Metabolic disorder
Diagnosis:– Skrining pd neonatus ( Guthrie test for PKU) – Urinalysis and blood tests. – Kebanyakan dapat terdiagnosa sebelum dws.– Pemeriksaan kromosom
.
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Metabolic DisorderTerapi:• diet. • Bersifat individual. • Dikoordinasikan oleh ahli dlm peny.
genetik.• Kebanyakan dpt dikurangi atau dihindari
dgn diagnosis awal dan mempertahankan intervensi diet.
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Degenerative disorder
Definition
• Conditions leading to progressive loss of function
• A disease in which the function or structure of the affected tissues or organs changes for the worse over time.
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Degenerative disorder
Contoh:
• Osteoarthritis• Osteoporosis• Alzheimer's disease
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Degenerative disorderOsteoarthritis Mrpk kerusakan akibat penggunaan sendi
dan terjadi dgn proses penuaan. Dpt terlihat pd semua individu.
Patologi:• Erosi pd permukaan sendi; kartilago sendi
kasar. • Penebalan ligamen sekitar sendi.• Sendi renggang, osteofit
pembengkakan dan pembesaran sendi.
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Degenerative disorder
Klinis:
• Inflamasi sendi (kemerahan, hangat, edema dan nyeri).
• Khas : peradangan datang malam saat sendi diistirahatkan
• Nyeri dan inflamasi terjadi dgn pergerakan.
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Degenerative disorder
Area terkena:• Sendi extremitas• Temporomandibular joint• Spine
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Degenerative disorder
Temporomandibular Disorders The National Institute of Dental and Craniofacial
Research:
• Nyeri myofascial, discomfort at nyeri otot yg mengontrol fungsi rahang dan otot2 leher dan bahu.
• Kerusakan internal sendi – dislokasi sendi rahang, or injuri pd condylus
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Degenerative disorderTerapi TMD• Istirahatkan sendi • Analgetika• relaxation techniques and stress management • behavior modification (TMJ: reduce or
eliminate the clenching of the teeth) • physical therapy • Alat orthopaedic atau ‘mouthguard’• Modifikasi diet (istirahatkan otot rahang) • Kompres es atau panas• pembedahan
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Degenerative disorder
Alzheimer’s diseasePenyebab tersering dementia pd
usia tua. Dementia : kondisi dimana kerja
otakAD mengenai bag otakyg
mengontrol fikiran,memory dan bahasa
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Degenerative disorder
Gejala Klinis:• Sulit mengingat kejadian yg baru, aktivitas atau
nama orang /benda yg sebelumnya dia kenal. Sulit mengerjakan soal matematik yang simpel.
• Lupa mengerjakan pekerjaan simpel spt menyisir rambut, menyikat gigi.
• Tdk bisa berfikir , mulai sulit berbicara, memahami, membaca at menulis. Kmd dpt menjadi gelisah at agresif at pergi meninggalkan rumah.
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• Acid Lipase Disease • Amyloidosis • Barth Syndrome ,Carnitine Palitoyl Transferase
Deficiency Type II (CPT-II) • Farber’s Disease ,
G6PD Deficiency (Glucose-6-Phosphate Dehydrogenase)
• Gangliosidoses ,Learning about Trimethylaminuria • Lesch-Nyhan Syndrome • Mitochondrial Myopathiesh • Mitochondrial Myopathies• Mucolipidoses
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To understand G6PD deficiency - a type of metabolic disorder - you will first need to know a little about what metabolism is and how enzymes play an essential role in it. Metabolism is a series of chemical processes through which the body uses the
nutrients in food to produce the energy it needs. The body requires energy as fuel to perform its most basic functions:
movement, growth, maintenance of healthy tissues, and removal of wastes. Throughout each day, metabolism involves
thousands of chemical reactions that are necessary for life.Cells produce special substances called enzymes that regulate most chemical reactions in the body. The body needs enzymes
so its metabolism can function properly. A child born with a metabolic disorder usually inherits a genetic mutation - a change in a gene - that creates problems with a particular
enzyme. That enzyme's activity may change or stop completely, altering one of the metabolic pathways that take place in the
body. As a result, a certain key substance, such as a carbohydrate, sugar, fat, or protein, is not processed correctly.
In this way, deficient enzymes affect the body's metabolic balance, which can lead to health problems that are sometimes
serious.
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Glucose-6-phosphate dehydrogenase , or G6PD, is just one of the many enzymes that affect cell metabolism. G6PD is produced by red blood cells and helps the body process carbohydrates, turning them into energy